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: CA1122186569

Gene: CDKN2B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1181699418

gnomAD v3: 9-22114513-G-A

gnomAD v4: 9-22114513-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.22114513G>A , CM000671.2:g.22114513G>A	GRCh38
NC_000009.11:g.22114512G>A , CM000671.1:g.22114512G>A	GRCh37
NC_000009.10:g.22104512G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_003529.3:n.2908+714G>A
NR_047532.1:n.1697+714G>A
NR_047534.1:n.961+714G>A
NR_047535.1:n.856+2118G>A
NR_047536.1:n.720+2118G>A
NR_047537.1:n.781-5687G>A
NR_047538.1:n.645-5687G>A
NR_047543.1:n.990+714G>A
NR_120536.1:n.645-5991G>A

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