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_000017.11:g.41583279del , CM000679.2:g.41583279del	GRCh38
NC_000017.10:g.39739531del , CM000679.1:g.39739531del	GRCh37
NC_000017.9:g.36993057del	NCBI36
NG_008624.1:g.8618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.1231del MANE Select	ENSP00000167586.6:p.Glu411ArgfsTer?
ENST00000167586.6:c.1231del	ENSP00000167586.6:p.Glu411ArgfsTer?
ENST00000441550.2:n.178del
ENST00000476662.1:n.681del
NM_000526.4:c.1231del	NP_000517.2:p.Glu411ArgfsTer?
NM_000526.5:c.1231del MANE Select	NP_000517.3:p.Glu411ArgfsTer?