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_000016.10:g.2276694_2276700del , CM000678.2:g.2276694_2276700del	GRCh38
NC_000016.9:g.2326695_2326701del , CM000678.1:g.2326695_2326701del	GRCh37
NC_000016.8:g.2266696_2266702del	NCBI36
NG_011790.1:g.69051_69057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.5093_5099del MANE Select	ENSP00000301732.5:p.Pro1698GlnfsTer?
ENST00000301732.9:c.5093_5099del	ENSP00000301732.5:p.Pro1698GlnfsTer?
ENST00000382381.7:c.4919_4925del	ENSP00000371818.3:p.Pro1640GlnfsTer?
NM_001089.2:c.5093_5099del	NP_001080.2:p.Pro1698GlnfsTer?
NM_001089.3:c.5093_5099del MANE Select	NP_001080.2:p.Pro1698GlnfsTer?