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_000001.11:g.179575732del , CM000663.2:g.179575732del	GRCh38
NC_000001.10:g.179544867del , CM000663.1:g.179544867del	GRCh37
NC_000001.9:g.177811490del	NCBI36
NG_007535.1:g.5219del , LRG_887:g.5219del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.134del MANE Select	ENSP00000356587.4:p.Pro45ArgfsTer?
ENST00000367615.8:c.134del	ENSP00000356587.4:p.Pro45ArgfsTer?
ENST00000367616.4:c.134del	ENSP00000356588.4:p.Pro45ArgfsTer?
NM_001297575.1:c.134del	NP_001284504.1:p.Pro45ArgfsTer?
NM_014625.3:c.134del , LRG_887t1:c.134del	NP_055440.1:p.Pro45ArgfsTer?
XM_005245483.2:c.134del	XP_005245540.1:p.Pro45ArgfsTer?
XM_006711529.2:c.134del	XP_006711592.1:p.Pro45ArgfsTer?
XM_005245483.3:c.134del	XP_005245540.1:p.Pro45ArgfsTer?
XM_017002298.1:c.134del	XP_016857787.1:p.Pro45ArgfsTer?
XM_017002299.1:c.134del	XP_016857788.1:p.Pro45ArgfsTer?
NM_001297575.2:c.134del	NP_001284504.1:p.Pro45ArgfsTer?
NM_014625.4:c.134del MANE Select	NP_055440.1:p.Pro45ArgfsTer?