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.138945773_138945783del , CM000665.2:g.138945773_138945783del	GRCh38
NC_000003.11:g.138664615_138664625del , CM000665.1:g.138664615_138664625del	GRCh37
NC_000003.10:g.140147305_140147315del	NCBI36
NG_012454.1:g.6365_6375del
NG_029796.1:g.3540_3550del

Transcript Alleles

HGVS	Amino-acid change
ENST00000648323.1:c.947_957del MANE Select	ENSP00000497217.1:p.Ala316GlyfsTer?
ENST00000330315.3:c.947_957del	ENSP00000333188.3:p.Ala316GlyfsTer?
NM_023067.3:c.947_957del	NP_075555.1:p.Ala316GlyfsTer?
NM_023067.4:c.947_957del MANE Select	NP_075555.1:p.Ala316GlyfsTer?