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_000023.11:g.25013352_25013380del , CM000685.2:g.25013352_25013380del	GRCh38
NC_000023.10:g.25031469_25031497del , CM000685.1:g.25031469_25031497del	GRCh37
NC_000023.9:g.24941390_24941418del	NCBI36
NG_008281.1:g.7573_7601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.619_647del MANE Select	ENSP00000368332.4:p.Val207CysfsTer21
ENST00000379044.4:c.619_647del	ENSP00000368332.4:p.Val207CysfsTer21
NM_139058.2:c.619_647del	NP_620689.1:p.Val207CysfsTer21
NM_139058.3:c.619_647del MANE Select	NP_620689.1:p.Val207CysfsTer21