Canonical Allele Identifier: CA2579478294

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814181del , CM000671.2:g.129814181del	GRCh38
NC_000009.11:g.132576460del , CM000671.1:g.132576460del	GRCh37
NC_000009.10:g.131616281del	NCBI36
NG_008049.1:g.14982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.790del MANE Select	ENSP00000345719.4:p.Asp264IlefsTer14
ENST00000651202.1:c.*58del	ENSP00000498222.1:n.*58del
ENST00000351698.4:c.790del	ENSP00000345719.4:p.Asp264IlefsTer14
ENST00000474192.1:n.374del
NM_000113.2:c.790del	NP_000104.1:p.Asp264IlefsTer14
XR_929731.1:n.1117del
XR_929731.3:n.985del
NM_000113.3:c.790del MANE Select	NP_000104.1:p.Asp264IlefsTer14