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_000015.10:g.48474384_48474385delinsGA , CM000677.2:g.48474384_48474385delinsGA	GRCh38
NC_000015.9:g.48766581_48766582delinsGA , CM000677.1:g.48766581_48766582delinsGA	GRCh37
NC_000015.8:g.46553873_46553874delinsGA	NCBI36
NG_008805.2:g.176404_176405delinsTC , LRG_778:g.176404_176405delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4088-8_4088-7delinsTC	ENSP00000453958.2:n.4088-8_4088-7delinsTC
ENST00000674301.2:c.4088-8_4088-7delinsTC	ENSP00000501333.2:n.4088-8_4088-7delinsTC
ENST00000684448.1:n.2762-8_2762-7delinsTC
ENST00000316623.10:c.4088-8_4088-7delinsTC MANE Select	ENSP00000325527.5:n.4088-8_4088-7delinsTC
ENST00000316623.9:c.4088-8_4088-7delinsTC	ENSP00000325527.5:n.4088-8_4088-7delinsTC
ENST00000537463.6:c.760-8_760-7delinsTC	ENSP00000440294.2:n.760-8_760-7delinsTC
NM_000138.4:c.4088-8_4088-7delinsTC , LRG_778t1:c.4088-8_4088-7delinsTC	NP_000129.3:n.4088-8_4088-7delinsTC
NM_000138.5:c.4088-8_4088-7delinsTC MANE Select	NP_000129.3:n.4088-8_4088-7delinsTC