Canonical Allele Identifier: CA1190705798

Gene: VANGL1

Linked Data

• dbSNP Id: rs201227775
• gnomAD v4: 1-115683823-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683835_115683836dup , CM000663.2:g.115683835_115683836dup	GRCh38
NC_000001.10:g.116226456_116226457dup , CM000663.1:g.116226456_116226457dup	GRCh37
NC_000001.9:g.116027979_116027980dup	NCBI36
NG_016548.1:g.46883_46884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.947-109_947-108dup MANE Select	ENSP00000347672.2:n.947-109_947-108dup
ENST00000310260.7:c.947-109_947-108dup	ENSP00000310800.3:n.947-109_947-108dup
ENST00000355485.6:c.947-109_947-108dup	ENSP00000347672.2:n.947-109_947-108dup
ENST00000369509.1:c.947-109_947-108dup	ENSP00000358522.1:n.947-109_947-108dup
ENST00000369510.8:c.941-109_941-108dup	ENSP00000358523.3:n.941-109_941-108dup
ENST00000474344.1:n.329-109_329-108dup
ENST00000478369.5:n.231-109_231-108dup
NM_001172411.1:c.941-109_941-108dup	NP_001165882.1:n.941-109_941-108dup
NM_001172412.1:c.947-109_947-108dup	NP_001165883.1:n.947-109_947-108dup
NM_138959.2:c.947-109_947-108dup	NP_620409.1:n.947-109_947-108dup
NM_138959.3:c.947-109_947-108dup MANE Select	NP_620409.1:n.947-109_947-108dup
NM_001172411.2:c.941-109_941-108dup	NP_001165882.1:n.941-109_941-108dup
NM_001172412.2:c.947-109_947-108dup	NP_001165883.1:n.947-109_947-108dup