Canonical Allele Identifier: CA2692045355
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813699-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813704_129813705del , CM000671.2:g.129813704_129813705del GRCh38
NC_000009.11:g.132575983_132575984del , CM000671.1:g.132575983_132575984del GRCh37
NC_000009.10:g.131615804_131615805del NCBI36
NG_008049.1:g.15462_15463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*271_*272del MANE Select ENSP00000345719.4:n.*271_*272del
ENST00000651202.1:c.*538_*539del ENSP00000498222.1:n.*538_*539del
ENST00000351698.4:c.*271_*272del ENSP00000345719.4:n.*271_*272del
ENST00000474192.1:n.854_855del
NM_000113.2:c.*271_*272del NP_000104.1:n.*271_*272del
XR_929731.3:n.1465_1466del
NM_000113.3:c.*271_*272del MANE Select NP_000104.1:n.*271_*272del
Search 100 bp 5'
Search 100 bp 3'