Canonical Allele Identifier: CA1880970765
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813548_129813552delinsTAAAA , CM000671.2:g.129813548_129813552delinsTAAAA GRCh38
NC_000009.11:g.132575827_132575831delinsTAAAA , CM000671.1:g.132575827_132575831delinsTAAAA GRCh37
NC_000009.10:g.131615648_131615652delinsTAAAA NCBI36
NG_008049.1:g.15611_15615delinsTTTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*420_*424delinsTTTTA MANE Select ENSP00000345719.4:n.*420_*424delinsTTTTA
ENST00000651202.1:c.*687_*691delinsTTTTA ENSP00000498222.1:n.*687_*691delinsTTTTA
ENST00000351698.4:c.*420_*424delinsTTTTA ENSP00000345719.4:n.*420_*424delinsTTTTA
NM_000113.2:c.*420_*424delinsTTTTA NP_000104.1:n.*420_*424delinsTTTTA
XR_929731.3:n.1614_1618delinsTTTTA
NM_000113.3:c.*420_*424delinsTTTTA MANE Select NP_000104.1:n.*420_*424delinsTTTTA
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