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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:
CA2686023137
Gene: DEFB1
HGNC
NCBI
Linked Data
gnomAD v4:
8-6877761-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.6877765del , CM000670.2:g.6877765del
GRCh38
NC_000008.10:g.6735287del , CM000670.1:g.6735287del
GRCh37
NC_000008.9:g.6722697del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000297439.4:c.61+35del
MANE Select
ENSP00000297439.3:n.61+35del
ENST00000297439.3:c.61+35del
ENSP00000297439.3:n.61+35del
NM_005218.3:c.61+35del
NP_005209.1:n.61+35del
NM_005218.4:c.61+35del
MANE Select
NP_005209.1:n.61+35del
Search 100 bp 5'
Search 100 bp 3'