Canonical Allele Identifier: CA2692045558
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813938-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813940del , CM000671.2:g.129813940del GRCh38
NC_000009.11:g.132576219del , CM000671.1:g.132576219del GRCh37
NC_000009.10:g.131616040del NCBI36
NG_008049.1:g.15224del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*33del MANE Select ENSP00000345719.4:n.*33del
ENST00000651202.1:c.*300del ENSP00000498222.1:n.*300del
ENST00000351698.4:c.*33del ENSP00000345719.4:n.*33del
ENST00000474192.1:n.616del
NM_000113.2:c.*33del NP_000104.1:n.*33del
XR_929731.3:n.1227del
NM_000113.3:c.*33del MANE Select NP_000104.1:n.*33del
Search 100 bp 5'
Search 100 bp 3'