Canonical Allele Identifier: CA1143468944

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683824_115683836delinsTGTGTGTGTGTGT , CM000663.2:g.115683824_115683836delinsTGTGTGTGTGTGT	GRCh38
NC_000001.10:g.116226445_116226457delinsTGTGTGTGTGTGT , CM000663.1:g.116226445_116226457delinsTGTGTGTGTGTGT	GRCh37
NC_000001.9:g.116027968_116027980delinsTGTGTGTGTGTGT	NCBI36
NG_016548.1:g.46872_46884delinsTGTGTGTGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.947-120_947-108delinsTGTGTGTGTGTGT MANE Select	ENSP00000347672.2:n.947-120_947-108delinsTGTGTGTGTGTGT
ENST00000310260.7:c.947-120_947-108delinsTGTGTGTGTGTGT	ENSP00000310800.3:n.947-120_947-108delinsTGTGTGTGTGTGT
ENST00000355485.6:c.947-120_947-108delinsTGTGTGTGTGTGT	ENSP00000347672.2:n.947-120_947-108delinsTGTGTGTGTGTGT
ENST00000369509.1:c.947-120_947-108delinsTGTGTGTGTGTGT	ENSP00000358522.1:n.947-120_947-108delinsTGTGTGTGTGTGT
ENST00000369510.8:c.941-120_941-108delinsTGTGTGTGTGTGT	ENSP00000358523.3:n.941-120_941-108delinsTGTGTGTGTGTGT
ENST00000474344.1:n.329-120_329-108delinsTGTGTGTGTGTGT
ENST00000478369.5:n.231-120_231-108delinsTGTGTGTGTGTGT
NM_001172411.1:c.941-120_941-108delinsTGTGTGTGTGTGT	NP_001165882.1:n.941-120_941-108delinsTGTGTGTGTGTGT
NM_001172412.1:c.947-120_947-108delinsTGTGTGTGTGTGT	NP_001165883.1:n.947-120_947-108delinsTGTGTGTGTGTGT
NM_138959.2:c.947-120_947-108delinsTGTGTGTGTGTGT	NP_620409.1:n.947-120_947-108delinsTGTGTGTGTGTGT
NM_138959.3:c.947-120_947-108delinsTGTGTGTGTGTGT MANE Select	NP_620409.1:n.947-120_947-108delinsTGTGTGTGTGTGT
NM_001172411.2:c.941-120_941-108delinsTGTGTGTGTGTGT	NP_001165882.1:n.941-120_941-108delinsTGTGTGTGTGTGT
NM_001172412.2:c.947-120_947-108delinsTGTGTGTGTGTGT	NP_001165883.1:n.947-120_947-108delinsTGTGTGTGTGTGT