Canonical Allele Identifier: CA2692045569
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814025-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814026dup , CM000671.2:g.129814026dup GRCh38
NC_000009.11:g.132576305dup , CM000671.1:g.132576305dup GRCh37
NC_000009.10:g.131616126dup NCBI36
NG_008049.1:g.15137dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.945dup MANE Select ENSP00000345719.4:p.Asp316ArgfsTer2
ENST00000651202.1:c.*213dup ENSP00000498222.1:n.*213dup
ENST00000351698.4:c.945dup ENSP00000345719.4:p.Asp316ArgfsTer2
ENST00000474192.1:n.529dup
NM_000113.2:c.945dup NP_000104.1:p.Asp316ArgfsTer2
XR_929731.3:n.1140dup
NM_000113.3:c.945dup MANE Select NP_000104.1:p.Asp316ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'