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_000011.10:g.5225663del , CM000673.2:g.5225663del	GRCh38
NC_000011.9:g.5246893del , CM000673.1:g.5246893del	GRCh37
NC_000011.8:g.5203469del	NCBI36
NG_000007.3:g.71953del
NG_059281.1:g.6409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.379del	ENSP00000494175.1:p.Val127CysfsTer?
ENST00000335295.4:c.379del MANE Select	ENSP00000333994.3:p.Val127CysfsTer?
ENST00000475226.1:n.311del
ENST00000633227.1:c.*195del	ENSP00000488004.1:n.*195del
NM_000518.4:c.379del	NP_000509.1:p.Val127CysfsTer?
NM_000518.5:c.379del MANE Select	NP_000509.1:p.Val127CysfsTer?