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_000005.10:g.1213369_1213448delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT , CM000667.2:g.1213369_1213448delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT	GRCh38
NC_000005.9:g.1213484_1213563delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT , CM000667.1:g.1213484_1213563delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT	GRCh37
NC_000005.8:g.1266484_1266563delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT	NCBI36
NG_008282.1:g.16775_16854delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000304460.11:c.664-94_664-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT MANE Select	ENSP00000305302.10:n.664-94_664-15delinsC...
ENST00000304460.10:c.664-94_664-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT	ENSP00000305302.10:n.664-94_664-15delinsC...
ENST00000515652.5:c.572-94_572-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT	ENSP00000425701.1:n.572-94_572-15delinsCC...
NM_001003841.2:c.664-94_664-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT	NP_001003841.1:n.664-94_664-15delinsCCCCG...
NM_001003841.3:c.664-94_664-15delinsCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT MANE Select	NP_001003841.1:n.664-94_664-15delinsCCCCG...