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_000017.11:g.7221954del , CM000679.2:g.7221954del	GRCh38
NC_000017.10:g.7125273del , CM000679.1:g.7125273del	GRCh37
NC_000017.9:g.7065997del	NCBI36
NG_007975.1:g.7121del
NG_008391.2:g.3100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.625del
ENST00000322910.9:c.*580del
ENST00000350303.9:c.559del
ENST00000356839.9:c.625del
ENST00000543245.6:c.694del
ENST00000577191.5:n.702del
ENST00000577857.5:n.441del
ENST00000579286.5:n.806del
ENST00000579886.2:c.463del
ENST00000580365.1:n.356del
ENST00000581378.5:c.343del
ENST00000581562.5:n.527del
ENST00000582379.1:n.9del
ENST00000583312.5:c.640del	ENSP00000467920.1:p.Glu214ArgfsTer8
ENST00000583760.1:n.407del
NM_000018.3:c.625del
NM_001033859.2:c.559del
NM_001270447.1:c.694del
NM_001270448.1:c.397del
XM_006721516.2:c.625del
XM_011523829.1:c.625del
XM_011523830.1:c.625del
XR_934021.1:n.732del
XR_934022.1:n.732del
XR_934023.1:n.732del
XM_006721516.3:c.625del
XM_011523829.2:c.625del
XM_011523830.2:c.625del
XM_024450741.1:c.625del
XR_934021.2:n.684del
XR_934022.2:n.684del
XR_934023.2:n.684del
NM_000018.4:c.625del
NM_001033859.3:c.559del
NM_001270447.2:c.694del
NM_001270448.2:c.397del

Linked Data

Genomic Alleles

Transcript Alleles