Canonical Allele Identifier: CA2497029741
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813548_129813549delinsTA , CM000671.2:g.129813548_129813549delinsTA GRCh38
NC_000009.11:g.132575827_132575828delinsTA , CM000671.1:g.132575827_132575828delinsTA GRCh37
NC_000009.10:g.131615648_131615649delinsTA NCBI36
NG_008049.1:g.15614_15615delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*423_*424delinsTA MANE Select ENSP00000345719.4:n.*423_*424delinsTA
ENST00000651202.1:c.*690_*691delinsTA ENSP00000498222.1:n.*690_*691delinsTA
ENST00000351698.4:c.*423_*424delinsTA ENSP00000345719.4:n.*423_*424delinsTA
NM_000113.2:c.*423_*424delinsTA NP_000104.1:n.*423_*424delinsTA
XR_929731.3:n.1617_1618delinsTA
NM_000113.3:c.*423_*424delinsTA MANE Select NP_000104.1:n.*423_*424delinsTA
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