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_000012.12:g.102840229_102840230delinsAC , CM000674.2:g.102840229_102840230delinsAC	GRCh38
NC_000012.11:g.103234007_103234008delinsAC , CM000674.1:g.103234007_103234008delinsAC	GRCh37
NC_000012.10:g.101758137_101758138delinsAC	NCBI36
NG_008690.1:g.82373_82374delinsGT
NG_008690.2:g.123181_123182delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1315+170_1315+171delinsGT MANE Select	ENSP00000448059.1:n.1315+170_1315+171deli...
ENST00000307000.7:c.1300+170_1300+171delinsGT	ENSP00000303500.2:n.1300+170_1300+171deli...
ENST00000551114.2:n.977+170_977+171delinsGT
ENST00000553106.5:c.1315+170_1315+171delinsGT	ENSP00000448059.1:n.1315+170_1315+171deli...
ENST00000635477.1:c.419+170_419+171delinsGT
ENST00000635528.1:n.830+170_830+171delinsGT
NM_000277.1:c.1315+170_1315+171delinsGT	NP_000268.1:n.1315+170_1315+171delinsGT
XM_011538422.1:c.1258+170_1258+171delinsGT	XP_011536724.1:n.1258+170_1258+171delinsG...
NM_000277.2:c.1315+170_1315+171delinsGT	NP_000268.1:n.1315+170_1315+171delinsGT
NM_001354304.1:c.1315+170_1315+171delinsGT	NP_001341233.1:n.1315+170_1315+171delinsG...
NM_000277.3:c.1315+170_1315+171delinsGT MANE Select	NP_000268.1:n.1315+170_1315+171delinsGT
NM_001354304.2:c.1315+170_1315+171delinsGT	NP_001341233.1:n.1315+170_1315+171delinsG...