Canonical Allele Identifier: CA1880970807
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813557_129813558delinsAC , CM000671.2:g.129813557_129813558delinsAC GRCh38
NC_000009.11:g.132575836_132575837delinsAC , CM000671.1:g.132575836_132575837delinsAC GRCh37
NC_000009.10:g.131615657_131615658delinsAC NCBI36
NG_008049.1:g.15605_15606delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*414_*415delinsGT MANE Select ENSP00000345719.4:n.*414_*415delinsGT
ENST00000651202.1:c.*681_*682delinsGT ENSP00000498222.1:n.*681_*682delinsGT
ENST00000351698.4:c.*414_*415delinsGT ENSP00000345719.4:n.*414_*415delinsGT
NM_000113.2:c.*414_*415delinsGT NP_000104.1:n.*414_*415delinsGT
XR_929731.3:n.1608_1609delinsGT
NM_000113.3:c.*414_*415delinsGT MANE Select NP_000104.1:n.*414_*415delinsGT
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