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_000003.12:g.81648858del , CM000665.2:g.81648858del	GRCh38
NC_000003.11:g.81698009del , CM000665.1:g.81698009del	GRCh37
NC_000003.10:g.81780699del	NCBI36
NG_011810.1:g.117944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.690del MANE Select	ENSP00000410833.2:p.Gly231AspfsTer7
ENST00000429644.6:c.690del	ENSP00000410833.2:p.Gly231AspfsTer7
ENST00000489715.1:c.567del	ENSP00000419638.1:p.Gly190AspfsTer7
ENST00000498468.1:n.218del
NM_000158.3:c.690del	NP_000149.3:p.Gly231AspfsTer7
NM_000158.4:c.690del MANE Select	NP_000149.4:p.Gly231AspfsTer7