Canonical Allele Identifier: CA2637956466

Gene: CAVIN1

Linked Data

• gnomAD v4: 17-42404790-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404794dup , CM000679.2:g.42404794dup	GRCh38
NC_000017.10:g.40556812dup , CM000679.1:g.40556812dup	GRCh37
NC_000017.9:g.37810338dup	NCBI36
NG_015845.1:g.23530dup
NG_015845.2:g.23530dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1069dup MANE Select	ENSP00000349541.4:p.Glu357GlyfsTer?
ENST00000357037.5:c.1069dup	ENSP00000349541.4:p.Glu357GlyfsTer?
NM_012232.5:c.1069dup	NP_036364.2:p.Glu357GlyfsTer?
NM_012232.6:c.1069dup MANE Select	NP_036364.2:p.Glu357GlyfsTer?