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_000007.14:g.44147903A= , CM000669.2:g.44147903A=	GRCh38
NC_000007.13:g.44187502A= , CM000669.1:g.44187502A=	GRCh37
NC_000007.12:g.44154027A=	NCBI36
NG_008847.1:g.46521T=
NG_008847.2:g.55268T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*678-70T=	ENSP00000379142.4:n.*678-70T=
ENST00000616242.5:c.680-70T=	ENSP00000482149.2:n.680-70T=
ENST00000345378.7:c.683-70T=	ENSP00000223366.2:n.683-70T=
ENST00000403799.8:c.680-70T= MANE Select	ENSP00000384247.3:n.680-70T=
ENST00000671824.1:c.680-70T=	ENSP00000500264.1:n.680-70T=
ENST00000673284.1:c.680-70T=	ENSP00000499852.1:n.680-70T=
ENST00000345378.6:c.683-70T=	ENSP00000223366.2:n.683-70T=
ENST00000395796.7:c.677-70T=	ENSP00000379142.3:n.677-70T=
ENST00000403799.7:c.680-70T=	ENSP00000384247.3:n.680-70T=
ENST00000437084.1:c.629-70T=	ENSP00000402840.1:n.629-70T=
ENST00000616242.4:c.677-70T=	ENSP00000482149.1:n.677-70T=
NM_000162.3:c.680-70T=	NP_000153.1:n.680-70T=
NM_033507.1:c.683-70T=	NP_277042.1:n.683-70T=
NM_033508.1:c.677-70T=	NP_277043.1:n.677-70T=
XR_927223.1:n.82+155A=
NM_000162.4:c.680-70T=	NP_000153.1:n.680-70T=
NM_001354800.1:c.680-70T=	NP_001341729.1:n.680-70T=
NM_033507.2:c.683-70T=	NP_277042.1:n.683-70T=
NM_033508.2:c.677-70T=	NP_277043.1:n.677-70T=
XR_927223.2:n.82+155A=
NM_000162.5:c.680-70T= MANE Select	NP_000153.1:n.680-70T=
NM_033507.3:c.683-70T=	NP_277042.1:n.683-70T=
NM_033508.3:c.677-70T=	NP_277043.1:n.677-70T=