Canonical Allele Identifier: CA525428051

Gene: VANGL1

Linked Data

• dbSNP Id: rs1270683193
• gnomAD v2: 1-116226636-CACA-C
• gnomAD v4: 1-115684015-CACA-C
• MyVariant Identifiers: chr1:g.116226637_116226639del (hg19) ; chr1:g.115684016_115684018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115684018_115684020del , CM000663.2:g.115684018_115684020del	GRCh38
NC_000001.10:g.116226639_116226641del , CM000663.1:g.116226639_116226641del	GRCh37
NC_000001.9:g.116028162_116028164del	NCBI36
NG_016548.1:g.47066_47068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.1021_1023del MANE Select	ENSP00000347672.2:p.Asn341del
ENST00000310260.7:c.1021_1023del	ENSP00000310800.3:p.Asn341del
ENST00000355485.6:c.1021_1023del	ENSP00000347672.2:p.Asn341del
ENST00000369509.1:c.1021_1023del	ENSP00000358522.1:p.Asn341del
ENST00000369510.8:c.1015_1017del	ENSP00000358523.3:p.Asn339del
ENST00000474344.1:n.403_405del
ENST00000478369.5:n.305_307del
NM_001172411.1:c.1015_1017del	NP_001165882.1:p.Asn339del
NM_001172412.1:c.1021_1023del	NP_001165883.1:p.Asn341del
NM_138959.2:c.1021_1023del	NP_620409.1:p.Asn341del
NM_138959.3:c.1021_1023del MANE Select	NP_620409.1:p.Asn341del
NM_001172411.2:c.1015_1017del	NP_001165882.1:p.Asn339del
NM_001172412.2:c.1021_1023del	NP_001165883.1:p.Asn341del