Canonical Allele Identifier: CA1880971309
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813952_129813955delinsCCGG , CM000671.2:g.129813952_129813955delinsCCGG GRCh38
NC_000009.11:g.132576231_132576234delinsCCGG , CM000671.1:g.132576231_132576234delinsCCGG GRCh37
NC_000009.10:g.131616052_131616055delinsCCGG NCBI36
NG_008049.1:g.15208_15211delinsCCGG

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*17_*20delinsCCGG MANE Select ENSP00000345719.4:n.*17_*20delinsCCGG
ENST00000651202.1:c.*284_*287delinsCCGG ENSP00000498222.1:n.*284_*287delinsCCGG
ENST00000351698.4:c.*17_*20delinsCCGG ENSP00000345719.4:n.*17_*20delinsCCGG
ENST00000474192.1:n.600_603delinsCCGG
NM_000113.2:c.*17_*20delinsCCGG NP_000104.1:n.*17_*20delinsCCGG
XR_929731.3:n.1211_1214delinsCCGG
NM_000113.3:c.*17_*20delinsCCGG MANE Select NP_000104.1:n.*17_*20delinsCCGG
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