Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818759dup , CM000671.2:g.127818759dup	GRCh38
NC_000009.11:g.130581038dup , CM000671.1:g.130581038dup	GRCh37
NC_000009.10:g.129620859dup	NCBI36
NG_009551.1:g.41010dup , LRG_589:g.41010dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.839dup	ENSP00000479015.1:p.Ala281GlyfsTer?
ENST00000373203.9:c.1385dup MANE Select	ENSP00000362299.4:p.Ala463GlyfsTer?
ENST00000344849.4:c.1385dup	ENSP00000341917.3:p.Ala463GlyfsTer?
ENST00000373203.8:c.1385dup	ENSP00000362299.4:p.Ala463GlyfsTer?
ENST00000480266.5:c.839dup	ENSP00000479015.1:p.Ala281GlyfsTer?
NM_000118.3:c.1385dup , LRG_589t1:c.1385dup	NP_000109.1:p.Ala463GlyfsTer?
NM_001114753.2:c.1385dup , LRG_589t2:c.1385dup	NP_001108225.1:p.Ala463GlyfsTer?
NM_001278138.1:c.839dup	NP_001265067.1:p.Ala281GlyfsTer?
NR_136302.1:n.1568+48dup
NM_001114753.3:c.1385dup MANE Select	NP_001108225.1:p.Ala463GlyfsTer?
NM_001278138.2:c.839dup	NP_001265067.1:p.Ala281GlyfsTer?