Canonical Allele Identifier: CA2692045246
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813548-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813556_129813557del , CM000671.2:g.129813556_129813557del GRCh38
NC_000009.11:g.132575835_132575836del , CM000671.1:g.132575835_132575836del GRCh37
NC_000009.10:g.131615656_131615657del NCBI36
NG_008049.1:g.15613_15614del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*422_*423del MANE Select ENSP00000345719.4:n.*422_*423del
ENST00000651202.1:c.*689_*690del ENSP00000498222.1:n.*689_*690del
ENST00000351698.4:c.*422_*423del ENSP00000345719.4:n.*422_*423del
NM_000113.2:c.*422_*423del NP_000104.1:n.*422_*423del
XR_929731.3:n.1616_1617del
NM_000113.3:c.*422_*423del MANE Select NP_000104.1:n.*422_*423del
Search 100 bp 5'
Search 100 bp 3'