Canonical Allele Identifier: CA2692045257
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813559-ACAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813560_129813562del , CM000671.2:g.129813560_129813562del GRCh38
NC_000009.11:g.132575839_132575841del , CM000671.1:g.132575839_132575841del GRCh37
NC_000009.10:g.131615660_131615662del NCBI36
NG_008049.1:g.15601_15603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*410_*412del MANE Select ENSP00000345719.4:n.*410_*412del
ENST00000651202.1:c.*677_*679del ENSP00000498222.1:n.*677_*679del
ENST00000351698.4:c.*410_*412del ENSP00000345719.4:n.*410_*412del
NM_000113.2:c.*410_*412del NP_000104.1:n.*410_*412del
XR_929731.3:n.1604_1606del
NM_000113.3:c.*410_*412del MANE Select NP_000104.1:n.*410_*412del
Search 100 bp 5'
Search 100 bp 3'