Canonical Allele Identifier: CA2637956465
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404786_42404787insC , CM000679.2:g.42404786_42404787insC GRCh38
NC_000017.10:g.40556804_40556805insC , CM000679.1:g.40556804_40556805insC GRCh37
NC_000017.9:g.37810330_37810331insC NCBI36
NG_015845.1:g.23534_23535insG
NG_015845.2:g.23534_23535insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1073_1074insG MANE Select ENSP00000349541.4:p.Gly359ArgfsTer?
ENST00000357037.5:c.1073_1074insG ENSP00000349541.4:p.Gly359ArgfsTer?
NM_012232.5:c.1073_1074insG NP_036364.2:p.Gly359ArgfsTer?
NM_012232.6:c.1073_1074insG MANE Select NP_036364.2:p.Gly359ArgfsTer?