Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Canonical Allele Identifier: CA862217751

Gene: CDKN2B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1296545312

gnomAD v3: 9-22115013-A-C

gnomAD v4: 9-22115013-A-C

MyVariant Identifiers: chr9:g.22115012A>C (hg19) chr9:g.22115013A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.22115013A>C , CM000671.2:g.22115013A>C	GRCh38
NC_000009.11:g.22115012A>C , CM000671.1:g.22115012A>C	GRCh37
NC_000009.10:g.22105012A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_003529.3:n.2908+1214A>C
NR_047532.1:n.1697+1214A>C
NR_047534.1:n.961+1214A>C
NR_047535.1:n.856+2618A>C
NR_047536.1:n.720+2618A>C
NR_047537.1:n.781-5187A>C
NR_047538.1:n.645-5187A>C
NR_047543.1:n.990+1214A>C
NR_120536.1:n.645-5491A>C

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