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.102854081_102854082insAATAAAACCTTTAA , CM000674.2:g.102854081_102854082insAATAAAACCTTTAA	GRCh38
NC_000012.11:g.103247859_103247860insAATAAAACCTTTAA , CM000674.1:g.103247859_103247860insAATAAAACCTTTAA	GRCh37
NC_000012.10:g.101771989_101771990insAATAAAACCTTTAA	NCBI36
NG_008690.1:g.68521_68522insTTAAAGGTTTTATT
NG_008690.2:g.109329_109330insTTAAAGGTTTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.706+1054_706+1055insTTAAAGGTTTTATT MANE Select	ENSP00000448059.1:n.706+1054_706+1055insTTAAAGGTTTTATT
ENST00000307000.7:c.691+1054_691+1055insTTAAAGGTTTTATT	ENSP00000303500.2:n.691+1054_691+1055insTTAAAGGTTTTATT
ENST00000553106.5:c.706+1054_706+1055insTTAAAGGTTTTATT	ENSP00000448059.1:n.706+1054_706+1055insTTAAAGGTTTTATT
NM_000277.1:c.706+1054_706+1055insTTAAAGGTTTTATT	NP_000268.1:n.706+1054_706+1055insTTAAAGGTTTTATT
XM_011538422.1:c.706+1054_706+1055insTTAAAGGTTTTATT	XP_011536724.1:n.706+1054_706+1055insTTAAAGGTTTTATT
NM_000277.2:c.706+1054_706+1055insTTAAAGGTTTTATT	NP_000268.1:n.706+1054_706+1055insTTAAAGGTTTTATT
NM_001354304.1:c.706+1054_706+1055insTTAAAGGTTTTATT	NP_001341233.1:n.706+1054_706+1055insTTAAAGGTTTTATT
XM_017019370.2:c.703_704insTTAAAGGTTTTATT	XP_016874859.1:n.703_704insTTAAAGGTTTTATT
NM_000277.3:c.706+1054_706+1055insTTAAAGGTTTTATT MANE Select	NP_000268.1:n.706+1054_706+1055insTTAAAGGTTTTATT
NM_001354304.2:c.706+1054_706+1055insTTAAAGGTTTTATT	NP_001341233.1:n.706+1054_706+1055insTTAAAGGTTTTATT