Canonical Allele Identifier: CA29589310

Gene: VANGL1

Linked Data

• dbSNP Id: rs201227775
• gnomAD v2: 1-116226444-TTG-T
• gnomAD v3: 1-115683823-TTG-T
• gnomAD v4: 1-115683823-TTG-T
• MyVariant Identifiers: chr1:g.116226445_116226446del (hg19) ; chr1:g.115683824_115683825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683835_115683836del , CM000663.2:g.115683835_115683836del	GRCh38
NC_000001.10:g.116226456_116226457del , CM000663.1:g.116226456_116226457del	GRCh37
NC_000001.9:g.116027979_116027980del	NCBI36
NG_016548.1:g.46883_46884del

Transcript Alleles

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