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.72123598_72123610del , CM000679.2:g.72123598_72123610del	GRCh38
NC_000017.10:g.70119739_70119751del , CM000679.1:g.70119739_70119751del	GRCh37
NC_000017.9:g.67631334_67631346del	NCBI36
NG_012490.1:g.7579_7591del

Transcript Alleles

HGVS	Amino-acid change
ENST00000245479.3:c.741_753del MANE Select	ENSP00000245479.2:p.Gly248Ter
ENST00000245479.2:c.741_753del	ENSP00000245479.2:p.Gly248Ter
NM_000346.3:c.741_753del	NP_000337.1:p.Gly248Ter
NM_000346.4:c.741_753del MANE Select	NP_000337.1:p.Gly248Ter