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_000014.9:g.28768439del , CM000676.2:g.28768439del	GRCh38
NC_000014.8:g.29237645del , CM000676.1:g.29237645del	GRCh37
NC_000014.7:g.28307396del	NCBI36
NG_009367.1:g.6359del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706482.1:c.1160del	ENSP00000516406.1:p.Ser387TrpfsTer?
ENST00000313071.7:c.1160del MANE Select	ENSP00000339004.3:p.Ser387TrpfsTer?
ENST00000313071.6:c.1160del	ENSP00000339004.3:p.Ser387TrpfsTer?
NM_005249.4:c.1160del	NP_005240.3:p.Ser387TrpfsTer?
NM_005249.5:c.1160del MANE Select	NP_005240.3:p.Ser387TrpfsTer?