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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:
CA2576029232
Gene: HSD11B2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.67436703_67436705del , CM000678.2:g.67436703_67436705del
GRCh38
NC_000016.9:g.67470606_67470608del , CM000678.1:g.67470606_67470608del
GRCh37
NC_000016.8:g.66028107_66028109del
NCBI36
NG_011482.1:g.49482_49484del
NG_016549.1:g.10571_10573del
Transcript Alleles
HGVS
Amino-acid change
ENST00000326152.6:c.918_920del
MANE Select
ENSP00000316786.5:p.Gln306_Phe307delinsHis
ENST00000326152.5:c.918_920del
ENSP00000316786.5:p.Gln306_Phe307delinsHis
NM_000196.3:c.918_920del
NP_000187.3:p.Gln306_Phe307delinsHis
NM_000196.4:c.918_920del
MANE Select
NP_000187.3:p.Gln306_Phe307delinsHis
Search 100 bp 5'
Search 100 bp 3'