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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
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Canonical Allele Identifier:
CA2692330353
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133255995-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255997del , CM000671.2:g.133255997del
GRCh38
NC_000009.11:g.136131384del , CM000671.1:g.136131384del
GRCh37
NC_000009.10:g.135121205del
NCBI36
NG_006669.1:g.21672del
NG_006669.2:g.24220del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.764del
ENST00000647353.1:n.54-4844del
ENST00000679909.1:c.28+19166del
ENSP00000506089.1:n.28+19166del
ENST00000453660.3:n.746del
ENST00000538324.2:c.732del
ENSP00000483018.1:p.Tyr245ThrfsTer?
ENST00000611156.4:c.732del
ENSP00000483265.1:p.Tyr245ThrfsTer?
NM_020469.2:c.735del
NP_065202.2:p.Tyr246ThrfsTer?
NM_020469.3:c.735del
NP_065202.2:p.Tyr246ThrfsTer?
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