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: CA4612880

Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs763414826

ExAC: 8:6735345 CA / C

gnomAD v2: 8-6735345-CA-C

gnomAD v3: 8-6877823-CA-C

gnomAD v4: 8-6877823-CA-C

MyVariant Identifiers: chr8:g.6735346del (hg19) chr8:g.6877824del (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877824del , CM000670.2:g.6877824del	GRCh38
NC_000008.10:g.6735346del , CM000670.1:g.6735346del	GRCh37
NC_000008.9:g.6722756del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.4:c.34del MANE Select	ENSP00000297439.3:p.Cys12AlafsTer?
ENST00000297439.3:c.34del	ENSP00000297439.3:p.Cys12AlafsTer?
NM_005218.3:c.34del	NP_005209.1:p.Cys12AlafsTer?
NM_005218.4:c.34del MANE Select	NP_005209.1:p.Cys12AlafsTer?

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