Canonical Allele Identifier: CA340352
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 5180

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814065_129814067del , CM000671.2:g.129814065_129814067del GRCh38
NC_000009.11:g.132576344_132576346del , CM000671.1:g.132576344_132576346del GRCh37
NC_000009.10:g.131616165_131616167del NCBI36
NG_008049.1:g.15099_15101del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.907_909del MANE Select ENSP00000345719.4:p.Glu303del
ENST00000651202.1:c.*175_*177del ENSP00000498222.1:p.=
ENST00000351698.4:c.907_909del ENSP00000345719.4:p.Glu303del
ENST00000474192.1:n.491_493del
NM_000113.2:c.907_909del NP_000104.1:p.Glu303del
XR_929731.1:n.1234_1236del
XR_929731.3:n.1102_1104del
NM_000113.3:c.907_909del MANE Select NP_000104.1:p.Glu303del