Canonical Allele Identifier: CA2832555374
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814161dup , CM000671.2:g.129814161dup GRCh38
NC_000009.11:g.132576440dup , CM000671.1:g.132576440dup GRCh37
NC_000009.10:g.131616261dup NCBI36
NG_008049.1:g.15006dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.814dup MANE Select ENSP00000345719.4:p.Leu272ProfsTer20
ENST00000651202.1:c.*82dup ENSP00000498222.1:n.*82dup
ENST00000351698.4:c.814dup ENSP00000345719.4:p.Leu272ProfsTer20
ENST00000474192.1:n.398dup
NM_000113.2:c.814dup NP_000104.1:p.Leu272ProfsTer20
XR_929731.1:n.1141dup
XR_929731.3:n.1009dup
NM_000113.3:c.814dup MANE Select NP_000104.1:p.Leu272ProfsTer20
Search 100 bp 5'
Search 100 bp 3'