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_000002.12:g.96254029del , CM000664.2:g.96254029del	GRCh38
NC_000002.11:g.96919767del , CM000664.1:g.96919767del	GRCh37
NC_000002.10:g.96283494del	NCBI36
NG_027695.1:g.16986del , LRG_528:g.16986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.497del MANE Select	ENSP00000258439.3:p.Gly166AspfsTer?
ENST00000258439.7:c.497del	ENSP00000258439.2:p.Gly166AspfsTer?
ENST00000432959.1:c.497del	ENSP00000416660.1:p.Gly166AspfsTer?
ENST00000435268.1:c.245del	ENSP00000411810.1:p.Gly82AspfsTer?
NM_001193304.2:c.497del	NP_001180233.1:p.Gly166AspfsTer?
NM_017849.3:c.497del , LRG_528t1:c.497del	NP_060319.1:p.Gly166AspfsTer?
XM_017004450.1:c.-422del	XP_016859939.1:n.-422del
XM_017004452.1:c.245del	XP_016859941.1:p.Gly82AspfsTer?
NM_001193304.3:c.497del	NP_001180233.1:p.Gly166AspfsTer?
NM_017849.4:c.497del MANE Select	NP_060319.1:p.Gly166AspfsTer?