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.50697588_50697589insGCCGCCGCCGCAGCGCCCGCCGCC , CM000684.2:g.50697588_50697589insGCCGCCGCCGCAGCGCCCGCCGCC	GRCh38
NC_000022.10:g.51136016_51136017insGCCGCCGCCGCAGCGCCCGCCGCC , CM000684.1:g.51136016_51136017insGCCGCCGCCGCAGCGCCCGCCGCC	GRCh37
NC_000022.9:g.49482882_49482883insGCCGCCGCCGCAGCGCCCGCCGCC	NCBI36
NG_008607.2:g.28234_28235insGCCGCCGCCGCAGCGCCCGCCGCC
NG_070230.1:g.33453_33454insGCCGCCGCCGCAGCGCCCGCCGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.972_973insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000489147.2:p.Ala324_Pro325insAlaAl...
ENST00000414786.7:n.1556_1557insGCCGCCGCCGCAGCGCCCGCCGCC
ENST00000445220.7:c.24_25insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000489407.2:p.Ala8_Pro9insAlaAlaAla...
ENST00000673971.2:c.1329_1330insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000501192.1:p.Ala443_Pro444insAlaAl...
ENST00000445220.6:c.24_25insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000489407.2:p.Ala8_Pro9insAlaAlaAla...
ENST00000262795.6:c.972_973insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000489147.2:p.Ala324_Pro325insAlaAl...
ENST00000673971.1:c.1329_1330insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000501192.1:p.Ala443_Pro444insAlaAl...
ENST00000673995.1:c.25_26insGCCGCCGCCGCAGCGCCCGCCGCC
ENST00000262795.5:c.1368_1369insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000489147.1:p.Ala456_Pro457insAlaAl...
ENST00000414786.6:n.1556_1557insGCCGCCGCCGCAGCGCCCGCCGCC
ENST00000445220.5:c.1350_1351insGCCGCCGCCGCAGCGCCCGCCGCC	ENSP00000489407.1:p.Ala450_Pro451insAlaAl...