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_000010.11:g.87863601_87863623dup , CM000672.2:g.87863601_87863623dup	GRCh38
NC_000010.10:g.89623358_89623380dup , CM000672.1:g.89623358_89623380dup	GRCh37
NC_000010.9:g.89613338_89613360dup	NCBI36
NG_007466.2:g.5164_5186dup , LRG_311:g.5164_5186dup
NG_033079.1:g.4821_4843dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-16-853_-16-831dup (PTEN)	ENSP00000516674.1:n.-16-853_-16-831dup
ENST00000688308.1:c.-17+488_-17+510dup (PTEN)	ENSP00000508752.1:n.-17+488_-17+510dup
ENST00000692337.1:c.43_65dup (MLDHR)	ENSP00000509326.1:p.Val23AlafsTer?
ENST00000693560.1:c.-349_-327dup (PTEN)	ENSP00000509861.1:n.-349_-327dup
ENST00000371953.7:c.-869_-847dup (PTEN)	ENSP00000361021.3:n.-869_-847dup
ENST00000610634.1:c.-971_-949dup (PTEN)	ENSP00000477517.1:n.-971_-949dup
NM_000314.5:c.-868_-846dup (PTEN)	NP_000305.3:n.-868_-846dup
NM_000314.6:c.-868_-846dup (PTEN)	NP_000305.3:n.-868_-846dup
NM_001304717.2:c.-349_-327dup (PTEN)	NP_001291646.2:n.-349_-327dup
NM_001304718.1:c.-1573_-1551dup (PTEN)	NP_001291647.1:n.-1573_-1551dup

Linked Data

Genomic Alleles

Transcript Alleles