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_000007.14:g.150974776_150974783del , CM000669.2:g.150974776_150974783del	GRCh38
NC_000007.13:g.150671864_150671871del , CM000669.1:g.150671864_150671871del	GRCh37
NC_000007.12:g.150302797_150302804del	NCBI36
NG_008916.1:g.8145_8152del , LRG_288:g.8145_8152del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.236_243del MANE Select	ENSP00000262186.5:p.Ala79AspfsTer?
ENST00000262186.9:c.236_243del	ENSP00000262186.5:p.Ala79AspfsTer?
ENST00000430723.4:c.59_66del	ENSP00000387657.4:p.Ala20AspfsTer?
ENST00000532957.5:n.459_466del
NM_000238.3:c.236_243del , LRG_288t1:c.236_243del	NP_000229.1:p.Ala79AspfsTer?
NM_172056.2:c.236_243del , LRG_288t2:c.236_243del	NP_742053.1:p.Ala79AspfsTer?
XM_011516186.1:c.236_243del	XP_011514488.1:p.Ala79AspfsTer?
XM_011516186.3:c.236_243del	XP_011514488.1:p.Ala79AspfsTer?
XM_017012196.1:c.59_66del	XP_016867685.1:p.Ala20AspfsTer?
NM_000238.4:c.236_243del MANE Select	NP_000229.1:p.Ala79AspfsTer?