Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445143_48445155delinsCACATATATATAT , CM000677.2:g.48445143_48445155delinsCACATATATATAT	GRCh38
NC_000015.9:g.48737340_48737352delinsCACATATATATAT , CM000677.1:g.48737340_48737352delinsCACATATATATAT	GRCh37
NC_000015.8:g.46524632_46524644delinsCACATATATATAT	NCBI36
NG_008805.2:g.205634_205646delinsATATATATATGTG , LRG_778:g.205634_205646delinsATATATATATGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+221_5917+233delinsATATATATATGTG	ENSP00000453958.2:n.5917+221_5917+233delinsATATATATATGTG
ENST00000674301.2:c.5917+221_5917+233delinsATATATATATGTG	ENSP00000501333.2:n.5917+221_5917+233delinsATATATATATGTG
ENST00000684448.1:n.4591+221_4591+233delinsATATATATATGTG
ENST00000316623.10:c.5917+221_5917+233delinsATATATATATGTG MANE Select	ENSP00000325527.5:n.5917+221_5917+233delinsATATATATATGTG
ENST00000674301.1:c.916+221_916+233delinsATATATATATGTG	ENSP00000501333.1:n.916+221_916+233delinsATATATATATGTG
ENST00000316623.9:c.5917+221_5917+233delinsATATATATATGTG	ENSP00000325527.5:n.5917+221_5917+233delinsATATATATATGTG
ENST00000537463.6:c.1680+221_1680+233delinsATATATATATGTG	ENSP00000440294.2:n.1680+221_1680+233delinsATATATATATGTG
ENST00000559133.5:c.1224+221_1224+233delinsATATATATATGTG
ENST00000560820.1:n.37+221_37+233delinsATATATATATGTG
NM_000138.4:c.5917+221_5917+233delinsATATATATATGTG , LRG_778t1:c.5917+221_5917+233delinsATATATATATGTG	NP_000129.3:n.5917+221_5917+233delinsATATATATATGTG
NM_000138.5:c.5917+221_5917+233delinsATATATATATGTG MANE Select	NP_000129.3:n.5917+221_5917+233delinsATATATATATGTG