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_000004.12:g.54285930_54285932del , CM000666.2:g.54285930_54285932del	GRCh38
NC_000004.11:g.55152097_55152099del , CM000666.1:g.55152097_55152099del	GRCh37
NC_000004.10:g.54846854_54846856del	NCBI36
NG_009250.1:g.61834_61836del , LRG_309:g.61834_61836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2529_2531del MANE Select	ENSP00000257290.5:p.Ile843del
ENST00000257290.9:c.2529_2531del	ENSP00000257290.5:p.Ile843del
ENST00000507166.5:c.1809_1811del	ENSP00000423325.1:p.Ile603del
NM_006206.4:c.2529_2531del , LRG_309t1:c.2529_2531del	NP_006197.1:p.Ile843del
XM_005265743.1:c.2529_2531del	XP_005265800.1:p.Ile843del
XM_006714039.2:c.2604_2606del	XP_006714102.1:p.Ile868del
XM_011534385.1:c.2529_2531del	XP_011532687.1:p.Ile843del
XM_011534386.1:c.2529_2531del	XP_011532688.1:p.Ile843del
NM_001347828.1:c.2604_2606del	NP_001334757.1:p.Ile868del
NM_001347829.1:c.2529_2531del	NP_001334758.1:p.Ile843del
NM_001347830.1:c.2568_2570del	NP_001334759.1:p.Ile856del
NM_006206.5:c.2529_2531del	NP_006197.1:p.Ile843del
NM_006206.6:c.2529_2531del MANE Select	NP_006197.1:p.Ile843del
NM_001347828.2:c.2604_2606del	NP_001334757.1:p.Ile868del
NM_001347829.2:c.2529_2531del	NP_001334758.1:p.Ile843del
NM_001347830.2:c.2568_2570del	NP_001334759.1:p.Ile856del

Linked Data

Genomic Alleles

Transcript Alleles