Canonical Allele Identifier: CA2786061636
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813733del , CM000671.2:g.129813733del GRCh38
NC_000009.11:g.132576012del , CM000671.1:g.132576012del GRCh37
NC_000009.10:g.131615833del NCBI36
NG_008049.1:g.15432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*241del MANE Select ENSP00000345719.4:n.*241del
ENST00000651202.1:c.*508del ENSP00000498222.1:n.*508del
ENST00000351698.4:c.*241del ENSP00000345719.4:n.*241del
ENST00000474192.1:n.824del
NM_000113.2:c.*241del NP_000104.1:n.*241del
XR_929731.3:n.1435del
NM_000113.3:c.*241del MANE Select NP_000104.1:n.*241del