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_000021.9:g.34887092_34887098dup , CM000683.2:g.34887092_34887098dup	GRCh38
NC_000021.8:g.36259389_36259395dup , CM000683.1:g.36259389_36259395dup	GRCh37
NC_000021.7:g.35181259_35181265dup	NCBI36
NG_011402.2:g.1102616_1102622dup , LRG_482:g.1102616_1102622dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.98_104dup
ENST00000300305.7:c.98_104dup
ENST00000344691.8:c.17_23dup	ENSP00000340690.4:p.Ser8ArgfsTer?
ENST00000358356.9:c.17_23dup	ENSP00000351123.5:p.Ser8ArgfsTer?
ENST00000399237.6:c.62_68dup
ENST00000399240.5:c.17_23dup	ENSP00000382184.1:p.Ser8ArgfsTer?
ENST00000437180.5:c.98_104dup
ENST00000455571.5:c.59_65dup
ENST00000475045.6:c.98_104dup
ENST00000482318.5:c.59-6383_59-6377dup	ENSP00000477067.1:n.59-6383_59-6377dup
NM_001001890.2:c.17_23dup	NP_001001890.1:p.Ser8ArgfsTer?
NM_001122607.1:c.17_23dup	NP_001116079.1:p.Ser8ArgfsTer?
NM_001754.4:c.98_104dup , LRG_482t1:c.98_104dup
XM_005261068.3:c.62_68dup
XM_005261069.3:c.98_104dup
XM_011529766.1:c.98_104dup
XM_011529767.1:c.59_65dup
XM_011529768.1:c.59_65dup
XM_011529770.1:c.98_104dup
XR_937576.1:n.277_283dup
XM_005261069.4:c.98_104dup
XM_011529766.2:c.98_104dup
XM_011529767.2:c.59_65dup
XM_011529768.2:c.59_65dup
XM_011529770.2:c.98_104dup
XM_017028487.1:c.-56_-50dup
XR_937576.2:n.324_330dup
NM_001001890.3:c.17_23dup	NP_001001890.1:p.Ser8ArgfsTer?
NM_001122607.2:c.17_23dup	NP_001116079.1:p.Ser8ArgfsTer?
NM_001754.5:c.98_104dup

Linked Data

Genomic Alleles

Transcript Alleles