Canonical Allele Identifier: CA1190705863
Gene: VANGL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115683973_115683974delinsCG , CM000663.2:g.115683973_115683974delinsCG GRCh38
NC_000001.10:g.116226594_116226595delinsCG , CM000663.1:g.116226594_116226595delinsCG GRCh37
NC_000001.9:g.116028117_116028118delinsCG NCBI36
NG_016548.1:g.47021_47022delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.976_977delinsCG MANE Select ENSP00000347672.2:p.Arg326=
ENST00000310260.7:c.976_977delinsCG ENSP00000310800.3:p.Arg326=
ENST00000355485.6:c.976_977delinsCG ENSP00000347672.2:p.Arg326=
ENST00000369509.1:c.976_977delinsCG ENSP00000358522.1:p.Arg326=
ENST00000369510.8:c.970_971delinsCG ENSP00000358523.3:p.Arg324=
ENST00000474344.1:n.358_359delinsCG
ENST00000478369.5:n.260_261delinsCG
NM_001172411.1:c.970_971delinsCG NP_001165882.1:p.Arg324=
NM_001172412.1:c.976_977delinsCG NP_001165883.1:p.Arg326=
NM_138959.2:c.976_977delinsCG NP_620409.1:p.Arg326=
NM_138959.3:c.976_977delinsCG MANE Select NP_620409.1:p.Arg326=
NM_001172411.2:c.970_971delinsCG NP_001165882.1:p.Arg324=
NM_001172412.2:c.976_977delinsCG NP_001165883.1:p.Arg326=