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.1213515_1213519del , CM000667.2:g.1213515_1213519del	GRCh38
NC_000005.9:g.1213630_1213634del , CM000667.1:g.1213630_1213634del	GRCh37
NC_000005.8:g.1266630_1266634del	NCBI36
NG_008282.1:g.16921_16925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304460.11:c.716_720del MANE Select	ENSP00000305302.10:p.Ile239ArgfsTer?
ENST00000304460.10:c.716_720del	ENSP00000305302.10:p.Ile239ArgfsTer?
ENST00000515652.5:c.624_628del	ENSP00000425701.1:p.His208GlnfsTer3
NM_001003841.2:c.716_720del	NP_001003841.1:p.Ile239ArgfsTer?
NM_001003841.3:c.716_720del MANE Select	NP_001003841.1:p.Ile239ArgfsTer?