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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:
CA1887456512
Gene: AKR1C6P
HGNC
NCBI
AKR1E2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.4886152_4886155delinsCCAA , CM000672.2:g.4886152_4886155delinsCCAA
GRCh38
NC_000010.10:g.4928344_4928347delinsCCAA , CM000672.1:g.4928344_4928347delinsCCAA
GRCh37
NC_000010.9:g.4918344_4918347delinsCCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000432950.1:n.456-635_456-632delinsTTGG
(AKR1C6P)
NR_026743.1:n.653-1062_653-1059delinsTTGG
(AKR1C6P)
XM_017016744.1:c.*14-22199_*14-22196delinsCCAA
(AKR1E2)
XP_016872233.1:n.*14-22199_*14-22196delin...
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