Canonical Allele Identifier: CA2647279700

Gene: VANGL1

Linked Data

• gnomAD v4: 1-115683970-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683973del , CM000663.2:g.115683973del	GRCh38
NC_000001.10:g.116226594del , CM000663.1:g.116226594del	GRCh37
NC_000001.9:g.116028117del	NCBI36
NG_016548.1:g.47021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.976del MANE Select	ENSP00000347672.2:p.Arg326GlyfsTer3
ENST00000310260.7:c.976del	ENSP00000310800.3:p.Arg326GlyfsTer3
ENST00000355485.6:c.976del	ENSP00000347672.2:p.Arg326GlyfsTer3
ENST00000369509.1:c.976del	ENSP00000358522.1:p.Arg326GlyfsTer3
ENST00000369510.8:c.970del	ENSP00000358523.3:p.Arg324GlyfsTer3
ENST00000474344.1:n.358del
ENST00000478369.5:n.260del
NM_001172411.1:c.970del	NP_001165882.1:p.Arg324GlyfsTer3
NM_001172412.1:c.976del	NP_001165883.1:p.Arg326GlyfsTer3
NM_138959.2:c.976del	NP_620409.1:p.Arg326GlyfsTer3
NM_138959.3:c.976del MANE Select	NP_620409.1:p.Arg326GlyfsTer3
NM_001172411.2:c.970del	NP_001165882.1:p.Arg324GlyfsTer3
NM_001172412.2:c.976del	NP_001165883.1:p.Arg326GlyfsTer3