Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399101_1399102delinsGC , CM000681.2:g.1399101_1399102delinsGC	GRCh38
NC_000019.9:g.1399100_1399101delinsGC , CM000681.1:g.1399100_1399101delinsGC	GRCh37
NC_000019.8:g.1350100_1350101delinsGC	NCBI36
NG_009785.1:g.7452_7453delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.459+26_459+27delinsGC MANE Select	ENSP00000252288.1:n.459+26_459+27delinsGC
ENST00000447102.8:c.459+26_459+27delinsGC	ENSP00000403536.2:n.459+26_459+27delinsGC
ENST00000591788.3:c.142+26_142+27delinsGC
ENST00000640164.1:n.292+26_292+27delinsGC
ENST00000640762.1:c.390+26_390+27delinsGC	ENSP00000492031.1:n.390+26_390+27delinsGC
ENST00000252288.6:c.459+26_459+27delinsGC	ENSP00000252288.1:n.459+26_459+27delinsGC
ENST00000447102.7:c.459+26_459+27delinsGC	ENSP00000403536.2:n.459+26_459+27delinsGC
ENST00000591788.2:c.144+26_144+27delinsGC	ENSP00000466341.2:n.144+26_144+27delinsGC
NM_000156.5:c.459+26_459+27delinsGC	NP_000147.1:n.459+26_459+27delinsGC
NM_138924.2:c.459+26_459+27delinsGC	NP_620279.1:n.459+26_459+27delinsGC
NM_000156.6:c.459+26_459+27delinsGC MANE Select	NP_000147.1:n.459+26_459+27delinsGC
NM_138924.3:c.459+26_459+27delinsGC	NP_620279.1:n.459+26_459+27delinsGC