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.48445185_48445197delinsTATATATATATAC , CM000677.2:g.48445185_48445197delinsTATATATATATAC	GRCh38
NC_000015.9:g.48737382_48737394delinsTATATATATATAC , CM000677.1:g.48737382_48737394delinsTATATATATATAC	GRCh37
NC_000015.8:g.46524674_46524686delinsTATATATATATAC	NCBI36
NG_008805.2:g.205592_205604delinsGTATATATATATA , LRG_778:g.205592_205604delinsGTATATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+179_5917+191delinsGTATATATATATA	ENSP00000453958.2:n.5917+179_5917+191delinsGTATATATATATA
ENST00000674301.2:c.5917+179_5917+191delinsGTATATATATATA	ENSP00000501333.2:n.5917+179_5917+191delinsGTATATATATATA
ENST00000684448.1:n.4591+179_4591+191delinsGTATATATATATA
ENST00000316623.10:c.5917+179_5917+191delinsGTATATATATATA MANE Select	ENSP00000325527.5:n.5917+179_5917+191delinsGTATATATATATA
ENST00000674301.1:c.916+179_916+191delinsGTATATATATATA	ENSP00000501333.1:n.916+179_916+191delinsGTATATATATATA
ENST00000316623.9:c.5917+179_5917+191delinsGTATATATATATA	ENSP00000325527.5:n.5917+179_5917+191delinsGTATATATATATA
ENST00000537463.6:c.1680+179_1680+191delinsGTATATATATATA	ENSP00000440294.2:n.1680+179_1680+191delinsGTATATATATATA
ENST00000559133.5:c.1224+179_1224+191delinsGTATATATATATA
ENST00000560820.1:n.37+179_37+191delinsGTATATATATATA
NM_000138.4:c.5917+179_5917+191delinsGTATATATATATA , LRG_778t1:c.5917+179_5917+191delinsGTATATATATATA	NP_000129.3:n.5917+179_5917+191delinsGTATATATATATA
NM_000138.5:c.5917+179_5917+191delinsGTATATATATATA MANE Select	NP_000129.3:n.5917+179_5917+191delinsGTATATATATATA