Canonical Allele Identifier: CA2637956465

Gene: CAVIN1

Linked Data

• gnomAD v4: 17-42404786-G-GC

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?