Canonical Allele Identifier: CA2692045578
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814183-ATGAGGTTCCGGTCAATTAAGCTGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814186_129814209del , CM000671.2:g.129814186_129814209del GRCh38
NC_000009.11:g.132576465_132576488del , CM000671.1:g.132576465_132576488del GRCh37
NC_000009.10:g.131616286_131616309del NCBI36
NG_008049.1:g.14956_14979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.764_787del MANE Select ENSP00000345719.4:p.Ser255_Leu262del
ENST00000651202.1:c.*32_*55del ENSP00000498222.1:n.*32_*55del
ENST00000351698.4:c.764_787del ENSP00000345719.4:p.Ser255_Leu262del
ENST00000474192.1:n.348_371del
NM_000113.2:c.764_787del NP_000104.1:p.Ser255_Leu262del
XR_929731.1:n.1091_1114del
XR_929731.3:n.959_982del
NM_000113.3:c.764_787del MANE Select NP_000104.1:p.Ser255_Leu262del
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