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_000008.11:g.19951835_19951836insTGATTGGAAA , CM000670.2:g.19951835_19951836insTGATTGGAAA	GRCh38
NC_000008.10:g.19809346_19809347insTGATTGGAAA , CM000670.1:g.19809346_19809347insTGATTGGAAA	GRCh37
NC_000008.9:g.19853626_19853627insTGATTGGAAA	NCBI36
NG_008855.1:g.17765_17766insTGATTGGAAA
NG_008855.2:g.55119_55120insTGATTGGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000650287.1:c.316_317insTGATTGGAAA MANE Select	ENSP00000497642.1:p.Ser106LeufsTer?
ENST00000311322.8:c.316_317insTGATTGGAAA	ENSP00000309757.6:p.Ser106LeufsTer?
ENST00000520959.5:c.88_89insTGATTGGAAA	ENSP00000428496.1:p.Ser30LeufsTer?
ENST00000522701.5:c.316_317insTGATTGGAAA
ENST00000524029.5:c.316_317insTGATTGGAAA	ENSP00000428237.1:p.Ser106LeufsTer?
NM_000237.2:c.316_317insTGATTGGAAA	NP_000228.1:p.Ser106LeufsTer?
NM_000237.3:c.316_317insTGATTGGAAA MANE Select	NP_000228.1:p.Ser106LeufsTer?