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.102840236_102840237delinsTG , CM000674.2:g.102840236_102840237delinsTG	GRCh38
NC_000012.11:g.103234014_103234015delinsTG , CM000674.1:g.103234014_103234015delinsTG	GRCh37
NC_000012.10:g.101758144_101758145delinsTG	NCBI36
NG_008690.1:g.82366_82367delinsCA
NG_008690.2:g.123174_123175delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1315+163_1315+164delinsCA MANE Select	ENSP00000448059.1:n.1315+163_1315+164deli...
ENST00000307000.7:c.1300+163_1300+164delinsCA	ENSP00000303500.2:n.1300+163_1300+164deli...
ENST00000551114.2:n.977+163_977+164delinsCA
ENST00000553106.5:c.1315+163_1315+164delinsCA	ENSP00000448059.1:n.1315+163_1315+164deli...
ENST00000635477.1:c.419+163_419+164delinsCA
ENST00000635528.1:n.830+163_830+164delinsCA
NM_000277.1:c.1315+163_1315+164delinsCA	NP_000268.1:n.1315+163_1315+164delinsCA
XM_011538422.1:c.1258+163_1258+164delinsCA	XP_011536724.1:n.1258+163_1258+164delinsC...
NM_000277.2:c.1315+163_1315+164delinsCA	NP_000268.1:n.1315+163_1315+164delinsCA
NM_001354304.1:c.1315+163_1315+164delinsCA	NP_001341233.1:n.1315+163_1315+164delinsC...
NM_000277.3:c.1315+163_1315+164delinsCA MANE Select	NP_000268.1:n.1315+163_1315+164delinsCA
NM_001354304.2:c.1315+163_1315+164delinsCA	NP_001341233.1:n.1315+163_1315+164delinsC...