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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:
CA2809725998
Gene: HOXB13
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.48728247_48728250dup , CM000679.2:g.48728247_48728250dup
GRCh38
NC_000017.10:g.46805609_46805612dup , CM000679.1:g.46805609_46805612dup
GRCh37
NC_000017.9:g.44160608_44160611dup
NCBI36
NG_033789.1:g.5503_5506dup , LRG_771:g.5503_5506dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000290295.8:c.347_350dup
MANE Select
ENSP00000290295.8:p.Glu118ArgfsTer10
ENST00000290295.7:c.347_350dup
ENSP00000290295.7:p.Glu118ArgfsTer10
NM_006361.5:c.347_350dup , LRG_771t1:c.347_350dup
NP_006352.2:p.Glu118ArgfsTer10
NM_006361.6:c.347_350dup
MANE Select
NP_006352.2:p.Glu118ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'