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_000012.12:g.102866098_102866102delinsATCCT , CM000674.2:g.102866098_102866102delinsATCCT	GRCh38
NC_000012.11:g.103259876_103259880delinsATCCT , CM000674.1:g.103259876_103259880delinsATCCT	GRCh37
NC_000012.10:g.101784006_101784010delinsATCCT	NCBI36
NG_008690.1:g.56501_56505delinsAGGAT
NG_008690.2:g.97309_97313delinsAGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.509+494_509+498delinsAGGAT MANE Select	ENSP00000448059.1:n.509+494_509+498delinsAGGAT
ENST00000307000.7:c.494+494_494+498delinsAGGAT	ENSP00000303500.2:n.494+494_494+498delinsAGGAT
ENST00000549111.5:n.605+494_605+498delinsAGGAT
ENST00000551988.5:n.531-10770_531-10766delinsAGGAT
ENST00000553106.5:c.509+494_509+498delinsAGGAT	ENSP00000448059.1:n.509+494_509+498delinsAGGAT
NM_000277.1:c.509+494_509+498delinsAGGAT	NP_000268.1:n.509+494_509+498delinsAGGAT
XM_011538422.1:c.509+494_509+498delinsAGGAT	XP_011536724.1:n.509+494_509+498delinsAGGAT
NM_000277.2:c.509+494_509+498delinsAGGAT	NP_000268.1:n.509+494_509+498delinsAGGAT
NM_001354304.1:c.509+494_509+498delinsAGGAT	NP_001341233.1:n.509+494_509+498delinsAGGAT
XM_017019370.2:c.509+494_509+498delinsAGGAT	XP_016874859.1:n.509+494_509+498delinsAGGAT
NM_000277.3:c.509+494_509+498delinsAGGAT MANE Select	NP_000268.1:n.509+494_509+498delinsAGGAT
NM_001354304.2:c.509+494_509+498delinsAGGAT	NP_001341233.1:n.509+494_509+498delinsAGGAT