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_000022.11:g.50697588del , CM000684.2:g.50697588del	GRCh38
NC_000022.10:g.51136016del , CM000684.1:g.51136016del	GRCh37
NC_000022.9:g.49482882del	NCBI36
NG_008607.2:g.28234del
NG_070230.1:g.33453del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.972del	ENSP00000489147.2:p.Pro325ArgfsTer22
ENST00000414786.7:n.1556del
ENST00000445220.7:c.24del	ENSP00000489407.2:p.Pro9ArgfsTer22
ENST00000673971.2:c.1329del	ENSP00000501192.1:p.Pro444ArgfsTer22
ENST00000445220.6:c.24del	ENSP00000489407.2:p.Pro9ArgfsTer22
ENST00000262795.6:c.972del	ENSP00000489147.2:p.Pro325ArgfsTer22
ENST00000673971.1:c.1329del	ENSP00000501192.1:p.Pro444ArgfsTer22
ENST00000673995.1:c.25del
ENST00000262795.5:c.1368del	ENSP00000489147.1:p.Pro457ArgfsTer22
ENST00000414786.6:n.1556del
ENST00000445220.5:c.1350del	ENSP00000489407.1:p.Pro451ArgfsTer22