Canonical Allele Identifier: CA1880970877
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813599_129813602delinsCATA , CM000671.2:g.129813599_129813602delinsCATA GRCh38
NC_000009.11:g.132575878_132575881delinsCATA , CM000671.1:g.132575878_132575881delinsCATA GRCh37
NC_000009.10:g.131615699_131615702delinsCATA NCBI36
NG_008049.1:g.15561_15564delinsTATG

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*370_*373delinsTATG MANE Select ENSP00000345719.4:n.*370_*373delinsTATG
ENST00000651202.1:c.*637_*640delinsTATG ENSP00000498222.1:n.*637_*640delinsTATG
ENST00000351698.4:c.*370_*373delinsTATG ENSP00000345719.4:n.*370_*373delinsTATG
NM_000113.2:c.*370_*373delinsTATG NP_000104.1:n.*370_*373delinsTATG
XR_929731.3:n.1564_1567delinsTATG
NM_000113.3:c.*370_*373delinsTATG MANE Select NP_000104.1:n.*370_*373delinsTATG
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