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: CA1222575015

Gene: HLX-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1673640539

gnomAD v3: 1-220836777-AAT-A

gnomAD v4: 1-220836777-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220836779_220836780del , CM000663.2:g.220836779_220836780del	GRCh38
NC_000001.10:g.221010121_221010122del , CM000663.1:g.221010121_221010122del	GRCh37
NC_000001.9:g.219076744_219076745del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651706.1:c.842+31505_842+31506del	ENSP00000499157.1:n.842+31505_842+31506de...
NR_046901.1:n.293-3587_293-3586del

Search 100 bp 5'

Search 100 bp 3'