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.102852914del , CM000674.2:g.102852914del	GRCh38
NC_000012.11:g.103246692del , CM000674.1:g.103246692del	GRCh37
NC_000012.10:g.101770822del	NCBI36
NG_008690.1:g.69689del
NG_008690.2:g.110497del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.743del MANE Select	ENSP00000448059.1:p.Leu248ArgfsTer?
ENST00000307000.7:c.728del	ENSP00000303500.2:p.Leu243ArgfsTer?
ENST00000549247.6:n.502del
ENST00000553106.5:c.743del	ENSP00000448059.1:p.Leu248ArgfsTer?
NM_000277.1:c.743del	NP_000268.1:p.Leu248ArgfsTer?
XM_011538422.1:c.743del	XP_011536724.1:p.Leu248ArgfsTer?
NM_000277.2:c.743del	NP_000268.1:p.Leu248ArgfsTer?
NM_001354304.1:c.743del	NP_001341233.1:p.Leu248ArgfsTer?
NM_000277.3:c.743del MANE Select	NP_000268.1:p.Leu248ArgfsTer?
NM_001354304.2:c.743del	NP_001341233.1:p.Leu248ArgfsTer?