Canonical Allele Identifier: CA341563
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 21053
ClinVar RCV Id: RCV000020123
dbSNP Id: rs80358234

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814037_129814040del , CM000671.2:g.129814037_129814040del GRCh38
NC_000009.11:g.132576316_132576319del , CM000671.1:g.132576316_132576319del GRCh37
NC_000009.10:g.131616137_131616140del NCBI36
NG_008049.1:g.15126_15129del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.934_937del MANE Select ENSP00000345719.4:p.Arg312PhefsTer14
ENST00000651202.1:c.*202_*205del ENSP00000498222.1:p.=
ENST00000351698.4:c.934_937del ENSP00000345719.4:p.Arg312PhefsTer14
ENST00000474192.1:n.518_521del
NM_000113.2:c.934_937del NP_000104.1:p.Arg312PhefsTer14
XR_929731.1:n.1261_1264del
XR_929731.3:n.1129_1132del
NM_000113.3:c.934_937del MANE Select NP_000104.1:p.Arg312PhefsTer14