Canonical Allele Identifier: CA117315
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 5181
dbSNP Id: rs80358235

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813988_129814005del , CM000671.2:g.129813988_129814005del GRCh38
NC_000009.11:g.132576267_132576284del , CM000671.1:g.132576267_132576284del GRCh37
NC_000009.10:g.131616088_131616105del NCBI36
NG_008049.1:g.15158_15175del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.966_983del MANE Select ENSP00000345719.4:p.Phe323_Tyr328del
ENST00000651202.1:c.*234_*251del ENSP00000498222.1:p.=
ENST00000351698.4:c.966_983del ENSP00000345719.4:p.Phe323_Tyr328del
ENST00000474192.1:n.550_567del
NM_000113.2:c.966_983del NP_000104.1:p.Phe323_Tyr328del
XR_929731.3:n.1161_1178del
NM_000113.3:c.966_983del MANE Select NP_000104.1:p.Phe323_Tyr328del