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_000004.12:g.87811549_87811552delinsGAGA , CM000666.2:g.87811549_87811552delinsGAGA	GRCh38
NC_000004.11:g.88732701_88732704delinsGAGA , CM000666.1:g.88732701_88732704delinsGAGA	GRCh37
NC_000004.10:g.88951725_88951728delinsGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000226284.7:c.593_596delinsGAGA MANE Select	ENSP00000226284.5:p.Gly198=
ENST00000226284.6:c.593_596delinsGAGA	ENSP00000226284.5:p.Gly198=
NM_004967.3:c.593_596delinsGAGA	NP_004958.2:p.Gly198=
NM_004967.4:c.593_596delinsGAGA MANE Select	NP_004958.2:p.Gly198=