ClinVar

NM_001401501.2(MUC16):c.43669del (p.Ser14557fs)

Gene:

MUC16:mucin 16, cell surface associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 8885753 (on Assembly GRCh38)
• Chr19: 8996429 (on Assembly GRCh37)

Preferred name:

NM_001401501.2(MUC16):c.43669del (p.Ser14557fs)

HGVS:

• NC_000019.10:g.8885756del
• NG_055257.1:g.129638del
• NM_001401501.2:c.43669delMANE SELECT
• NM_001414686.1:c.44095del
• NM_001414687.1:c.43549del
• NM_024690.2:c.41143del
• NP_001388430.1:p.Ser14557fs
• NP_001401615.1:p.Ser14699fs
• NP_001401616.1:p.Ser14517fs
• NP_078966.2:p.Ser13715fs
• NC_000019.9:g.8996432del

This HGVS expression did not pass validation

Protein change:

S13715fs

Molecular consequence:

• NM_001401501.2:c.43669del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001414686.1:c.44095del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001414687.1:c.43549del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_024690.2:c.41143del - frameshift variant - [Sequence Ontology: SO:0001589]