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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA375197254
Gene: TOR1A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.129813946del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129813946del , CM000671.2:g.129813946del
GRCh38
NC_000009.11:g.132576225del , CM000671.1:g.132576225del
GRCh37
NC_000009.10:g.131616046del
NCBI36
NG_008049.1:g.15217del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351698.5:c.*26del
MANE Select
ENSP00000345719.4:n.*26del
ENST00000651202.1:c.*293del
ENSP00000498222.1:n.*293del
ENST00000351698.4:c.*26del
ENSP00000345719.4:n.*26del
ENST00000474192.1:n.609del
NM_000113.2:c.*26del
NP_000104.1:n.*26del
XR_929731.3:n.1220del
NM_000113.3:c.*26del
MANE Select
NP_000104.1:n.*26del
Search 100 bp 5'
Search 100 bp 3'