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_000013.11:g.32340680_32340681del , CM000675.2:g.32340680_32340681del	GRCh38
NC_000013.10:g.32914817_32914818del , CM000675.1:g.32914817_32914818del	GRCh37
NC_000013.9:g.31812817_31812818del	NCBI36
NG_012772.3:g.30201_30202del , LRG_293:g.30201_30202del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.6325_6326del	ENSP00000434898.2:p.Val2109Ter
ENST00000528762.2:c.6325_6326del	ENSP00000433168.2:p.Val2109Ter
ENST00000530893.7:c.5956_5957del	ENSP00000499438.2:p.Val1986Ter
ENST00000665585.2:c.6325_6326del	ENSP00000499570.2:p.Val2109Ter
ENST00000666593.2:c.6325_6326del	ENSP00000499256.2:p.Val2109Ter
ENST00000700202.2:c.6325_6326del	ENSP00000514856.2:p.Val2109Ter
ENST00000380152.8:c.6325_6326del MANE Select	ENSP00000369497.3:p.Val2109Ter
ENST00000544455.6:c.6325_6326del	ENSP00000439902.1:p.Val2109Ter
ENST00000614259.2:c.6325_6326del	ENSP00000506251.1:p.Val2109Ter
ENST00000680887.1:c.6325_6326del	ENSP00000505508.1:p.Val2109Ter
ENST00000380152.7:c.6325_6326del	ENSP00000369497.3:p.Val2109Ter
ENST00000544455.5:c.6325_6326del	ENSP00000439902.1:p.Val2109Ter
ENST00000614259.1:n.6325_6326del
NM_000059.3:c.6325_6326del , LRG_293t1:c.6325_6326del	NP_000050.2:p.Val2109Ter
XM_011535203.1:c.6325_6326del	XP_011533505.1:p.Val2109Ter
XM_011535204.1:c.6325_6326del	XP_011533506.1:p.Val2109Ter
XM_011535205.1:c.6325_6326del	XP_011533507.1:p.Val2109Ter
NM_000059.4:c.6325_6326del MANE Select	NP_000050.3:p.Val2109Ter

Linked Data

Genomic Alleles

Transcript Alleles