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_000022.11:g.50697592_50697599del , CM000684.2:g.50697592_50697599del	GRCh38
NC_000022.10:g.51136020_51136027del , CM000684.1:g.51136020_51136027del	GRCh37
NC_000022.9:g.49482886_49482893del	NCBI36
NG_008607.2:g.28238_28245del
NG_070230.1:g.33457_33464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.976_983del	ENSP00000489147.2:p.Pro326GlyfsTer26
ENST00000414786.7:n.1560_1567del
ENST00000445220.7:c.28_35del	ENSP00000489407.2:p.Pro10GlyfsTer26
ENST00000673971.2:c.1333_1340del	ENSP00000501192.1:p.Pro445GlyfsTer26
ENST00000445220.6:c.28_35del	ENSP00000489407.2:p.Pro10GlyfsTer26
ENST00000262795.6:c.976_983del	ENSP00000489147.2:p.Pro326GlyfsTer26
ENST00000673971.1:c.1333_1340del	ENSP00000501192.1:p.Pro445GlyfsTer26
ENST00000673995.1:c.29_36del
ENST00000262795.5:c.1372_1379del	ENSP00000489147.1:p.Pro458GlyfsTer26
ENST00000414786.6:n.1560_1567del
ENST00000445220.5:c.1354_1361del	ENSP00000489407.1:p.Pro452GlyfsTer26