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_000011.10:g.36350167_36350226delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT , CM000673.2:g.36350167_36350226delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	GRCh38
NC_000011.9:g.36371717_36371776delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT , CM000673.1:g.36371717_36371776delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	GRCh37
NC_000011.8:g.36328293_36328352delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000530639.6:c.-125-50830_-125-50771delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT MANE Select	ENSP00000435050.1:n.-125-50830_-125-50771...
ENST00000527172.5:c.-291-43679_-291-43620delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	ENSP00000433708.1:n.-291-43679_-291-43620...
ENST00000529034.5:n.152-50830_152-50771delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT
ENST00000530639.5:c.-125-50830_-125-50771delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	ENSP00000435050.1:n.-125-50830_-125-50771...
ENST00000532121.5:c.-126+102_-126+161delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	ENSP00000433893.1:n.-126+102_-126+161deli...
NM_001160167.1:c.-125-50830_-125-50771delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT	NP_001153639.1:n.-125-50830_-125-50771del...
NM_001160167.2:c.-125-50830_-125-50771delinsAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGGGTGGGTGTGTGT MANE Select	NP_001153639.1:n.-125-50830_-125-50771del...