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_000012.12:g.102855284del , CM000674.2:g.102855284del	GRCh38
NC_000012.11:g.103249062del , CM000674.1:g.103249062del	GRCh37
NC_000012.10:g.101773192del	NCBI36
NG_008690.1:g.67319del
NG_008690.2:g.108127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.558del MANE Select	ENSP00000448059.1:p.Trp187GlyfsTer8
ENST00000307000.7:c.543del	ENSP00000303500.2:p.Trp182GlyfsTer8
ENST00000549111.5:n.654del
ENST00000551988.5:n.579del
ENST00000553106.5:c.558del	ENSP00000448059.1:p.Trp187GlyfsTer8
NM_000277.1:c.558del	NP_000268.1:p.Trp187GlyfsTer8
XM_011538422.1:c.558del	XP_011536724.1:p.Trp187GlyfsTer8
NM_000277.2:c.558del	NP_000268.1:p.Trp187GlyfsTer8
NM_001354304.1:c.558del	NP_001341233.1:p.Trp187GlyfsTer8
XM_017019370.2:c.558del	XP_016874859.1:p.Trp187GlyfsTer8
NM_000277.3:c.558del MANE Select	NP_000268.1:p.Trp187GlyfsTer8
NM_001354304.2:c.558del	NP_001341233.1:p.Trp187GlyfsTer8