Canonical Allele Identifier: CA2692045574
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814071_129814072insT , CM000671.2:g.129814071_129814072insT GRCh38
NC_000009.11:g.132576350_132576351insT , CM000671.1:g.132576350_132576351insT GRCh37
NC_000009.10:g.131616171_131616172insT NCBI36
NG_008049.1:g.15091_15092insA

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.899_900insA MANE Select ENSP00000345719.4:p.Ala301GlyfsTer2
ENST00000651202.1:c.*167_*168insA ENSP00000498222.1:n.*167_*168insA
ENST00000351698.4:c.899_900insA ENSP00000345719.4:p.Ala301GlyfsTer2
ENST00000474192.1:n.483_484insA
NM_000113.2:c.899_900insA NP_000104.1:p.Ala301GlyfsTer2
XR_929731.1:n.1226_1227insA
XR_929731.3:n.1094_1095insA
NM_000113.3:c.899_900insA MANE Select NP_000104.1:p.Ala301GlyfsTer2