Canonical Allele Identifier: CA2603263932
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v3: 9-129819039-CT-C
gnomAD v4: 9-129819039-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819042del , CM000671.2:g.129819042del GRCh38
NC_000009.11:g.132581321del , CM000671.1:g.132581321del GRCh37
NC_000009.10:g.131621142del NCBI36
NG_008049.1:g.10123del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-120del MANE Select ENSP00000345719.4:n.445-120del
ENST00000651202.1:c.541-120del ENSP00000498222.1:n.541-120del
ENST00000351698.4:c.445-120del ENSP00000345719.4:n.445-120del
ENST00000473604.2:n.555-120del
NM_000113.2:c.445-120del NP_000104.1:n.445-120del
XR_929731.1:n.605-120del
XR_929731.3:n.473-120del
NM_000113.3:c.445-120del MANE Select NP_000104.1:n.445-120del
Search 100 bp 5'
Search 100 bp 3'