Canonical Allele Identifier: CA1880971163
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813810_129813811delinsCA , CM000671.2:g.129813810_129813811delinsCA GRCh38
NC_000009.11:g.132576089_132576090delinsCA , CM000671.1:g.132576089_132576090delinsCA GRCh37
NC_000009.10:g.131615910_131615911delinsCA NCBI36
NG_008049.1:g.15352_15353delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*161_*162delinsTG MANE Select ENSP00000345719.4:n.*161_*162delinsTG
ENST00000651202.1:c.*428_*429delinsTG ENSP00000498222.1:n.*428_*429delinsTG
ENST00000351698.4:c.*161_*162delinsTG ENSP00000345719.4:n.*161_*162delinsTG
ENST00000474192.1:n.744_745delinsTG
NM_000113.2:c.*161_*162delinsTG NP_000104.1:n.*161_*162delinsTG
XR_929731.3:n.1355_1356delinsTG
NM_000113.3:c.*161_*162delinsTG MANE Select NP_000104.1:n.*161_*162delinsTG
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