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.102840239_102840240delinsCA , CM000674.2:g.102840239_102840240delinsCA	GRCh38
NC_000012.11:g.103234017_103234018delinsCA , CM000674.1:g.103234017_103234018delinsCA	GRCh37
NC_000012.10:g.101758147_101758148delinsCA	NCBI36
NG_008690.1:g.82363_82364delinsTG
NG_008690.2:g.123171_123172delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1315+160_1315+161delinsTG MANE Select	ENSP00000448059.1:n.1315+160_1315+161deli...
ENST00000307000.7:c.1300+160_1300+161delinsTG	ENSP00000303500.2:n.1300+160_1300+161deli...
ENST00000551114.2:n.977+160_977+161delinsTG
ENST00000553106.5:c.1315+160_1315+161delinsTG	ENSP00000448059.1:n.1315+160_1315+161deli...
ENST00000635477.1:c.419+160_419+161delinsTG
ENST00000635528.1:n.830+160_830+161delinsTG
NM_000277.1:c.1315+160_1315+161delinsTG	NP_000268.1:n.1315+160_1315+161delinsTG
XM_011538422.1:c.1258+160_1258+161delinsTG	XP_011536724.1:n.1258+160_1258+161delinsT...
NM_000277.2:c.1315+160_1315+161delinsTG	NP_000268.1:n.1315+160_1315+161delinsTG
NM_001354304.1:c.1315+160_1315+161delinsTG	NP_001341233.1:n.1315+160_1315+161delinsT...
NM_000277.3:c.1315+160_1315+161delinsTG MANE Select	NP_000268.1:n.1315+160_1315+161delinsTG
NM_001354304.2:c.1315+160_1315+161delinsTG	NP_001341233.1:n.1315+160_1315+161delinsT...