Canonical Allele Identifier: CA525428045

Gene: VANGL1

Linked Data

• dbSNP Id: rs1268331256
• gnomAD v2: 1-116226536-A-ACTGTC
• gnomAD v3: 1-115683915-A-ACTGTC
• gnomAD v4: 1-115683915-A-ACTGTC
• MyVariant Identifiers: chr1:g.116226536_116226537insCTGTC (hg19) ; chr1:g.115683915_115683916insCTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683917_115683918insGTCCT , CM000663.2:g.115683917_115683918insGTCCT	GRCh38
NC_000001.10:g.116226538_116226539insGTCCT , CM000663.1:g.116226538_116226539insGTCCT	GRCh37
NC_000001.9:g.116028061_116028062insGTCCT	NCBI36
NG_016548.1:g.46965_46966insGTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.947-27_947-26insGTCCT MANE Select	ENSP00000347672.2:n.947-27_947-26insGTCCT
ENST00000310260.7:c.947-27_947-26insGTCCT	ENSP00000310800.3:n.947-27_947-26insGTCCT
ENST00000355485.6:c.947-27_947-26insGTCCT	ENSP00000347672.2:n.947-27_947-26insGTCCT
ENST00000369509.1:c.947-27_947-26insGTCCT	ENSP00000358522.1:n.947-27_947-26insGTCCT
ENST00000369510.8:c.941-27_941-26insGTCCT	ENSP00000358523.3:n.941-27_941-26insGTCCT
ENST00000474344.1:n.329-27_329-26insGTCCT
ENST00000478369.5:n.231-27_231-26insGTCCT
NM_001172411.1:c.941-27_941-26insGTCCT	NP_001165882.1:n.941-27_941-26insGTCCT
NM_001172412.1:c.947-27_947-26insGTCCT	NP_001165883.1:n.947-27_947-26insGTCCT
NM_138959.2:c.947-27_947-26insGTCCT	NP_620409.1:n.947-27_947-26insGTCCT
NM_138959.3:c.947-27_947-26insGTCCT MANE Select	NP_620409.1:n.947-27_947-26insGTCCT
NM_001172411.2:c.941-27_941-26insGTCCT	NP_001165882.1:n.941-27_941-26insGTCCT
NM_001172412.2:c.947-27_947-26insGTCCT	NP_001165883.1:n.947-27_947-26insGTCCT