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_000017.11:g.80118764_80118781dup , CM000679.2:g.80118764_80118781dup	GRCh38
NC_000017.10:g.78092563_78092580dup , CM000679.1:g.78092563_78092580dup	GRCh37
NC_000017.9:g.75707158_75707175dup	NCBI36
NG_009822.1:g.22209_22226dup , LRG_673:g.22209_22226dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2758_2775dup	ENSP00000460543.2:p.Asn925_Phe926insGlyValProValSerAsn
ENST00000572080.2:c.896_913dup	ENSP00000459972.2:n.896_913dup
ENST00000577106.6:c.2758_2775dup	ENSP00000458306.2:p.Asn925_Phe926insGlyValProValSerAsn
ENST00000302262.8:c.2758_2775dup MANE Select	ENSP00000305692.3:p.Asn925_Phe926insGlyValProValSerAsn
ENST00000302262.7:c.2758_2775dup	ENSP00000305692.3:p.Asn925_Phe926insGlyValProValSerAsn
ENST00000390015.7:c.2758_2775dup	ENSP00000374665.3:p.Asn925_Phe926insGlyValProValSerAsn
ENST00000573556.1:n.711_728dup
NM_000152.3:c.2758_2775dup , LRG_673t1:c.2758_2775dup	NP_000143.2:p.Asn925_Phe926insGlyValProValSerAsn
NM_001079803.1:c.2758_2775dup	NP_001073271.1:p.Asn925_Phe926insGlyValProValSerAsn
NM_001079804.1:c.2758_2775dup	NP_001073272.1:p.Asn925_Phe926insGlyValProValSerAsn
XM_005257193.1:c.2758_2775dup	XP_005257250.1:p.Asn925_Phe926insGlyValProValSerAsn
XM_005257194.3:c.2758_2775dup	XP_005257251.1:p.Asn925_Phe926insGlyValProValSerAsn
NM_000152.4:c.2758_2775dup	NP_000143.2:p.Asn925_Phe926insGlyValProValSerAsn
NM_001079803.2:c.2758_2775dup	NP_001073271.1:p.Asn925_Phe926insGlyValProValSerAsn
NM_001079804.2:c.2758_2775dup	NP_001073272.1:p.Asn925_Phe926insGlyValProValSerAsn
XM_005257193.2:c.2758_2775dup	XP_005257250.1:p.Asn925_Phe926insGlyValProValSerAsn
XM_005257194.4:c.2758_2775dup	XP_005257251.1:p.Asn925_Phe926insGlyValProValSerAsn
NM_000152.5:c.2758_2775dup MANE Select	NP_000143.2:p.Asn925_Phe926insGlyValProValSerAsn
NM_001079803.3:c.2758_2775dup	NP_001073271.1:p.Asn925_Phe926insGlyValProValSerAsn
NM_001079804.3:c.2758_2775dup	NP_001073272.1:p.Asn925_Phe926insGlyValProValSerAsn