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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:
CA2653131511
Gene: CD40
HGNC
NCBI
Linked Data
gnomAD v4:
20-46118244-ACCCCGCCCCTTTCCT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46118245_46118259del , CM000682.2:g.46118245_46118259del
GRCh38
NC_000020.10:g.44746884_44746898del , CM000682.1:g.44746884_44746898del
GRCh37
NC_000020.9:g.44180291_44180305del
NCBI36
NG_007279.1:g.4979_4993del , LRG_40:g.4979_4993del
Transcript Alleles
HGVS
Amino-acid change
XM_005260619.3:c.-99_-85del
XP_005260676.1:n.-99_-85del
XM_011529109.2:c.-99_-85del
XP_011527411.1:n.-99_-85del
XM_017028135.1:c.-99_-85del
XP_016883624.1:n.-99_-85del
XM_017028136.1:c.-99_-85del
XP_016883625.1:n.-99_-85del
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