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.7086431_7086477delinsTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAG , CM000674.2:g.7086431_7086477delinsTGTGAAGGAATGCAGCACCTGGTTCCCCTGTTGAGCAGAGGATAGAG	GRCh38
NG_062465.1:g.11131_11177delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1039-20_1065delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000648162.1:n.1011-20_1037delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000649804.1:c.133-20_159delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000535233.6:c.937-20_963delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000536053.6:c.1081-20_1107delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000540394.5:n.2104-20_2130delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000542285.5:c.1039-20_1065delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
ENST00000602298.2:n.1368_1414delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
NM_001733.4:c.1039-20_1065delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
NM_001354346.1:c.1081-20_1107delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
NM_001733.6:c.1039-20_1065delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
NM_001733.7:c.1039-20_1065delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA
NM_001354346.2:c.1081-20_1107delinsCTCTATCCTCTGCTCAACAGGGGAACCAGGTGCTGCATTCCTTCACA