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_000002.12:g.39007017A>G , CM000664.2:g.39007017A>G	GRCh38
NC_000002.11:g.39234158A>G , CM000664.1:g.39234158A>G	GRCh37
NC_000002.10:g.39087662A>G	NCBI36
NG_007530.1:g.118447T>C , LRG_754:g.118447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1440+14T>C	ENSP00000509424.1:n.1440+14T>C
ENST00000689668.1:n.2680+14T>C
ENST00000690876.1:c.2562+14T>C	ENSP00000508955.1:n.2562+14T>C
ENST00000691229.1:c.2442+14T>C	ENSP00000510437.1:n.2442+14T>C
ENST00000692089.1:c.2562+14T>C	ENSP00000508626.1:n.2562+14T>C
ENST00000692227.1:c.369+14T>C	ENSP00000509138.1:n.369+14T>C
ENST00000692620.1:c.*260+14T>C	ENSP00000509311.1:n.*260+14T>C
ENST00000402219.8:c.2673+14T>C MANE Select	ENSP00000384675.2:n.2673+14T>C
ENST00000395038.6:c.2673+14T>C	ENSP00000378479.2:n.2673+14T>C
ENST00000402219.6:c.2673+14T>C	ENSP00000384675.2:n.2673+14T>C
ENST00000426016.5:c.2673+14T>C	ENSP00000387784.1:n.2673+14T>C
ENST00000474390.1:n.469+14T>C
NM_005633.3:c.2673+14T>C , LRG_754t1:c.2673+14T>C	NP_005624.2:n.2673+14T>C
XM_005264515.3:c.2673+14T>C	XP_005264572.1:n.2673+14T>C
XM_011533060.1:c.2766+14T>C	XP_011531362.1:n.2766+14T>C
XM_011533061.1:c.2766+14T>C	XP_011531363.1:n.2766+14T>C
XM_011533062.1:c.2652+14T>C	XP_011531364.1:n.2652+14T>C
XM_011533063.1:c.2649+14T>C	XP_011531365.1:n.2649+14T>C
XM_011533064.1:c.2502+14T>C	XP_011531366.1:n.2502+14T>C
XM_011533065.1:c.2766+14T>C	XP_011531367.1:n.2766+14T>C
XM_011533066.1:c.1608+14T>C	XP_011531368.1:n.1608+14T>C
XM_005264515.4:c.2673+14T>C	XP_005264572.1:n.2673+14T>C
XM_011533062.2:c.2652+14T>C	XP_011531364.1:n.2652+14T>C
XM_011533064.2:c.2502+14T>C	XP_011531366.1:n.2502+14T>C
NM_001382394.1:c.2652+14T>C	NP_001369323.1:n.2652+14T>C
NM_001382395.1:c.2673+14T>C	NP_001369324.1:n.2673+14T>C
NM_005633.4:c.2673+14T>C MANE Select	NP_005624.2:n.2673+14T>C

Linked Data

Genomic Alleles

Transcript Alleles