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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:
CA2263242625
Gene: HOXB13
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.48728357_48728358delinsAG , CM000679.2:g.48728357_48728358delinsAG
GRCh38
NC_000017.10:g.46805719_46805720delinsAG , CM000679.1:g.46805719_46805720delinsAG
GRCh37
NC_000017.9:g.44160718_44160719delinsAG
NCBI36
NG_033789.1:g.5392_5393delinsCT , LRG_771:g.5392_5393delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000290295.8:c.236_237delinsCT
MANE Select
ENSP00000290295.8:p.Pro79=
ENST00000290295.7:c.236_237delinsCT
ENSP00000290295.7:p.Pro79=
NM_006361.5:c.236_237delinsCT , LRG_771t1:c.236_237delinsCT
NP_006352.2:p.Pro79=
NM_006361.6:c.236_237delinsCT
MANE Select
NP_006352.2:p.Pro79=
Search 100 bp 5'
Search 100 bp 3'