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.44147735del , CM000669.2:g.44147735del	GRCh38
NC_000007.13:g.44187334del , CM000669.1:g.44187334del	GRCh37
NC_000007.12:g.44153859del	NCBI36
NG_008847.1:g.46690del
NG_008847.2:g.55437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*777del	ENSP00000379142.4:n.*777del
ENST00000616242.5:c.779del	ENSP00000482149.2:p.Phe260SerfsTer27
ENST00000345378.7:c.782del	ENSP00000223366.2:p.Phe261SerfsTer?
ENST00000403799.8:c.779del MANE Select	ENSP00000384247.3:p.Phe260SerfsTer?
ENST00000671824.1:c.779del	ENSP00000500264.1:p.Phe260SerfsTer?
ENST00000673284.1:c.779del	ENSP00000499852.1:p.Phe260SerfsTer?
ENST00000345378.6:c.782del	ENSP00000223366.2:p.Phe261SerfsTer?
ENST00000395796.7:c.776del	ENSP00000379142.3:p.Phe259SerfsTer?
ENST00000403799.7:c.779del	ENSP00000384247.3:p.Phe260SerfsTer?
ENST00000437084.1:c.728del	ENSP00000402840.1:p.Phe243SerfsTer?
ENST00000616242.4:c.776del	ENSP00000482149.1:p.Phe259SerfsTer?
NM_000162.3:c.779del	NP_000153.1:p.Phe260SerfsTer?
NM_033507.1:c.782del	NP_277042.1:p.Phe261SerfsTer?
NM_033508.1:c.776del	NP_277043.1:p.Phe259SerfsTer?
XR_927223.1:n.69del
NM_000162.4:c.779del	NP_000153.1:p.Phe260SerfsTer?
NM_001354800.1:c.779del	NP_001341729.1:p.Phe260SerfsTer?
NM_033507.2:c.782del	NP_277042.1:p.Phe261SerfsTer?
NM_033508.2:c.776del	NP_277043.1:p.Phe259SerfsTer?
XR_927223.2:n.69del
NM_000162.5:c.779del MANE Select	NP_000153.1:p.Phe260SerfsTer?
NM_033507.3:c.782del	NP_277042.1:p.Phe261SerfsTer?
NM_033508.3:c.776del	NP_277043.1:p.Phe259SerfsTer?