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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:
CA645554675
Gene: HLA-DRA
HGNC
NCBI
Linked Data
COSMIC:
COSM5512233
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32443759_32443760del , CM000668.2:g.32443759_32443760del
GRCh38
NC_000006.11:g.32411536_32411537del , CM000668.1:g.32411536_32411537del
GRCh37
NC_000006.10:g.32519514_32519515del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000395388.7:c.614_615del
MANE Select
ENSP00000378786.2:p.Phe205Ter
ENST00000374982.5:c.539_540del
ENSP00000364121.5:p.Phe180Ter
ENST00000395388.6:c.614_615del
ENSP00000378786.2:p.Phe205Ter
NM_019111.4:c.614_615del
NP_061984.2:p.Phe205Ter
NM_019111.5:c.614_615del
MANE Select
NP_061984.2:p.Phe205Ter
Search 100 bp 5'
Search 100 bp 3'