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.80108711del , CM000679.2:g.80108711del	GRCh38
NC_000017.10:g.78082510del , CM000679.1:g.78082510del	GRCh37
NC_000017.9:g.75697105del	NCBI36
NG_009822.1:g.12156del , LRG_673:g.12156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1209del	ENSP00000460543.2:p.Asn403LysfsTer?
ENST00000572080.2:c.1209del	ENSP00000459972.2:p.Asn403LysfsTer?
ENST00000577106.6:c.1209del	ENSP00000458306.2:p.Asn403LysfsTer?
ENST00000302262.8:c.1209del MANE Select	ENSP00000305692.3:p.Asn403LysfsTer?
ENST00000302262.7:c.1209del	ENSP00000305692.3:p.Asn403LysfsTer?
ENST00000390015.7:c.1209del	ENSP00000374665.3:p.Asn403LysfsTer?
NM_000152.3:c.1209del , LRG_673t1:c.1209del	NP_000143.2:p.Asn403LysfsTer?
NM_001079803.1:c.1209del	NP_001073271.1:p.Asn403LysfsTer?
NM_001079804.1:c.1209del	NP_001073272.1:p.Asn403LysfsTer?
XM_005257193.1:c.1209del	XP_005257250.1:p.Asn403LysfsTer?
XM_005257194.3:c.1209del	XP_005257251.1:p.Asn403LysfsTer?
NM_000152.4:c.1209del	NP_000143.2:p.Asn403LysfsTer?
NM_001079803.2:c.1209del	NP_001073271.1:p.Asn403LysfsTer?
NM_001079804.2:c.1209del	NP_001073272.1:p.Asn403LysfsTer?
XM_005257193.2:c.1209del	XP_005257250.1:p.Asn403LysfsTer?
XM_005257194.4:c.1209del	XP_005257251.1:p.Asn403LysfsTer?
NM_000152.5:c.1209del MANE Select	NP_000143.2:p.Asn403LysfsTer?
NM_001079803.3:c.1209del	NP_001073271.1:p.Asn403LysfsTer?
NM_001079804.3:c.1209del	NP_001073272.1:p.Asn403LysfsTer?