Canonical Allele Identifier: CA653853849
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813955_129813956insA , CM000671.2:g.129813955_129813956insA GRCh38
NC_000009.11:g.132576234_132576235insA , CM000671.1:g.132576234_132576235insA GRCh37
NC_000009.10:g.131616055_131616056insA NCBI36
NG_008049.1:g.15207_15208insT

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*16_*17insT MANE Select ENSP00000345719.4:n.*16_*17insT
ENST00000651202.1:c.*283_*284insT ENSP00000498222.1:n.*283_*284insT
ENST00000351698.4:c.*16_*17insT ENSP00000345719.4:n.*16_*17insT
ENST00000474192.1:n.599_600insT
NM_000113.2:c.*16_*17insT NP_000104.1:n.*16_*17insT
XR_929731.3:n.1210_1211insT
NM_000113.3:c.*16_*17insT MANE Select NP_000104.1:n.*16_*17insT