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.119320547_119320558del , CM000666.2:g.119320547_119320558del	GRCh38
NC_000004.11:g.120241702_120241713del , CM000666.1:g.120241702_120241713del	GRCh37
NC_000004.10:g.120461150_120461161del	NCBI36
NG_011444.1:g.6604_6615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000274024.4:c.240+112_240+123del MANE Select	ENSP00000274024.3:n.240+112_240+123del
ENST00000274024.3:c.240+112_240+123del	ENSP00000274024.3:n.240+112_240+123del
NM_000134.3:c.240+112_240+123del	NP_000125.2:n.240+112_240+123del
NM_000134.4:c.240+112_240+123del MANE Select	NP_000125.2:n.240+112_240+123del