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_000012.12:g.91107203_91107205del , CM000674.2:g.91107203_91107205del	GRCh38
NC_000012.11:g.91500980_91500982del , CM000674.1:g.91500980_91500982del	GRCh37
NC_000012.10:g.90025111_90025113del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266718.5:c.862+915_862+917del MANE Select	ENSP00000266718.4:n.862+915_862+917del
ENST00000266718.4:c.862+915_862+917del	ENSP00000266718.4:n.862+915_862+917del
ENST00000546642.1:n.612+915_612+917del
ENST00000548071.1:n.255+915_255+917del
NM_002345.3:c.862+915_862+917del	NP_002336.1:n.862+915_862+917del
NM_002345.4:c.862+915_862+917del MANE Select	NP_002336.1:n.862+915_862+917del