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.54285925_54285926delinsAT , CM000666.2:g.54285925_54285926delinsAT	GRCh38
NC_000004.11:g.55152092_55152093delinsAT , CM000666.1:g.55152092_55152093delinsAT	GRCh37
NC_000004.10:g.54846849_54846850delinsAT	NCBI36
NG_009250.1:g.61829_61830delinsAT , LRG_309:g.61829_61830delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2524_2525delinsAT MANE Select	ENSP00000257290.5:p.Asp842Ile
ENST00000257290.9:c.2524_2525delinsAT	ENSP00000257290.5:p.Asp842Ile
ENST00000507166.5:c.1804_1805delinsAT	ENSP00000423325.1:p.Asp602Ile
NM_006206.4:c.2524_2525delinsAT , LRG_309t1:c.2524_2525delinsAT	NP_006197.1:p.Asp842Ile
XM_005265743.1:c.2524_2525delinsAT	XP_005265800.1:p.Asp842Ile
XM_006714039.2:c.2599_2600delinsAT	XP_006714102.1:p.Asp867Ile
XM_011534385.1:c.2524_2525delinsAT	XP_011532687.1:p.Asp842Ile
XM_011534386.1:c.2524_2525delinsAT	XP_011532688.1:p.Asp842Ile
NM_001347828.1:c.2599_2600delinsAT	NP_001334757.1:p.Asp867Ile
NM_001347829.1:c.2524_2525delinsAT	NP_001334758.1:p.Asp842Ile
NM_001347830.1:c.2563_2564delinsAT	NP_001334759.1:p.Asp855Ile
NM_006206.5:c.2524_2525delinsAT	NP_006197.1:p.Asp842Ile
NM_006206.6:c.2524_2525delinsAT MANE Select	NP_006197.1:p.Asp842Ile
NM_001347828.2:c.2599_2600delinsAT	NP_001334757.1:p.Asp867Ile
NM_001347829.2:c.2524_2525delinsAT	NP_001334758.1:p.Asp842Ile
NM_001347830.2:c.2563_2564delinsAT	NP_001334759.1:p.Asp855Ile

Linked Data

Genomic Alleles

Transcript Alleles