Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA2686023191

Gene: DEFB1 HGNC NCBI

Linked Data

gnomAD v4: 8-6877904-T-G

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877904T>G , CM000670.2:g.6877904T>G	GRCh38
NC_000008.10:g.6735426T>G , CM000670.1:g.6735426T>G	GRCh37
NC_000008.9:g.6722836T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.-47A>C MANE Select	ENSP00000297439.3:n.-47A>C
ENST00000297439.3:c.-47A>C	ENSP00000297439.3:n.-47A>C
NM_005218.3:c.-47A>C	NP_005209.1:n.-47A>C
NM_005218.4:c.-47A>C MANE Select	NP_005209.1:n.-47A>C

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