Canonical Allele Identifier: CA1190705875
Gene: VANGL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115684003_115684010delinsAGGGACTC , CM000663.2:g.115684003_115684010delinsAGGGACTC GRCh38
NC_000001.10:g.116226624_116226631delinsAGGGACTC , CM000663.1:g.116226624_116226631delinsAGGGACTC GRCh37
NC_000001.9:g.116028147_116028154delinsAGGGACTC NCBI36
NG_016548.1:g.47051_47058delinsAGGGACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.1006_1013delinsAGGGACTC MANE Select ENSP00000347672.2:p.Arg336=
ENST00000310260.7:c.1006_1013delinsAGGGACTC ENSP00000310800.3:p.Arg336=
ENST00000355485.6:c.1006_1013delinsAGGGACTC ENSP00000347672.2:p.Arg336=
ENST00000369509.1:c.1006_1013delinsAGGGACTC ENSP00000358522.1:p.Arg336=
ENST00000369510.8:c.1000_1007delinsAGGGACTC ENSP00000358523.3:p.Arg334=
ENST00000474344.1:n.388_395delinsAGGGACTC
ENST00000478369.5:n.290_297delinsAGGGACTC
NM_001172411.1:c.1000_1007delinsAGGGACTC NP_001165882.1:p.Arg334=
NM_001172412.1:c.1006_1013delinsAGGGACTC NP_001165883.1:p.Arg336=
NM_138959.2:c.1006_1013delinsAGGGACTC NP_620409.1:p.Arg336=
NM_138959.3:c.1006_1013delinsAGGGACTC MANE Select NP_620409.1:p.Arg336=
NM_001172411.2:c.1000_1007delinsAGGGACTC NP_001165882.1:p.Arg334=
NM_001172412.2:c.1006_1013delinsAGGGACTC NP_001165883.1:p.Arg336=