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

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.22081336_22081337insAAG , CM000671.2:g.22081336_22081337insAAG	GRCh38
NC_000009.11:g.22081335_22081336insAAG , CM000671.1:g.22081335_22081336insAAG	GRCh37
NC_000009.10:g.22071335_22071336insAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_003529.3:n.2448+14983_2448+14984insAAG
NR_047532.1:n.1076-10972_1076-10971insAAG
NR_047534.1:n.645-15922_645-15921insAAG
NR_047535.1:n.780+24949_780+24950insAAG
NR_047536.1:n.645-30984_645-30983insAAG
NR_047537.1:n.780+24949_780+24950insAAG
NR_047538.1:n.644+32108_644+32109insAAG
NR_047543.1:n.780+24949_780+24950insAAG
NR_120536.1:n.644+32108_644+32109insAAG