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.
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_000001.11:g.45331543_45331588delinsTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG , CM000663.2:g.45331543_45331588delinsTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG | GRCh38 |
| NC_000001.10:g.45797215_45797260delinsTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG , CM000663.1:g.45797215_45797260delinsTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG | GRCh37 |
| NC_000001.9:g.45569802_45569847delinsTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG | NCBI36 |
| NG_008189.1:g.13883_13928delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA , LRG_220:g.13883_13928delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.719-32_732delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000435155.2:c.1136-32_1149delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000467459.6:c.1126-32_1139delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000483127.2:c.1121-32_1134delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000485271.6:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000529892.6:c.956-32_969delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000533178.6:c.*432-32_*445delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000672314.2:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000710952.2:c.1187-32_1200delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000672818.3:c.1178-32_1191delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000456914.7:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000671898.1:c.1691-32_1704delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000672011.1:c.*432-32_*445delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000672314.1:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000672593.1:c.*1329-32_*1342delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000672818.2:c.1178-32_1191delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000673134.1:c.*800-32_*813delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000354383.10:c.1106-32_1119delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000355498.6:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000372098.7:c.1178-32_1191delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000372104.5:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000372110.7:c.1148-32_1161delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000372115.7:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000448481.5:c.1136-32_1149delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000450313.5:c.1187-32_1200delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000456914.6:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000467459.5:c.520-32_533delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000475516.5:c.*916-32_*929delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000481571.5:c.*916-32_*929delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000482094.5:n.424-32_437delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000488731.6:c.188-32_201delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000528013.6:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000529892.5:c.178-32_191delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000529984.5:c.188-32_201delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| ENST00000531105.5:c.116-2151_116-2106delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ENSP00000431292.1:n.116-2151_116-2106deli... | |
| ENST00000533178.5:c.732-32_745delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048171.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048172.1:c.1106-32_1119delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048173.1:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048174.1:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001128425.1:c.1187-32_1200delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA , LRG_220t1:c.1187-32_1200delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293190.1:c.1148-32_1161delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293191.1:c.1136-32_1149delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293192.1:c.827-32_840delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293195.1:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293196.1:c.827-32_840delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_012222.2:c.1178-32_1191delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541497.1:c.1163-32_1176delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541498.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541499.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541500.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541501.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541502.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541503.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541504.1:c.1136-32_1149delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541505.1:c.725-32_738delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541506.1:c.725-32_738delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541507.1:c.716-32_729delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541508.1:c.731-32_744delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XR_946658.1:n.1234-32_1247delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001350650.1:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001350651.1:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NR_146882.1:n.1361-32_1374delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NR_146883.1:n.1175-32_1188delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541497.3:c.1163-32_1176delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541500.3:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541501.2:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541502.2:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541503.2:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541504.2:c.1136-32_1149delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541505.2:c.725-32_738delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_011541506.2:c.725-32_738delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001331.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001332.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001333.1:c.1145-32_1158delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001334.1:c.1106-32_1119delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001335.1:c.827-32_840delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001336.1:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_017001337.1:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_024447244.1:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_024447245.1:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_024447248.1:c.716-32_729delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_024447249.1:c.587-32_600delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_024447250.1:c.587-32_600delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XM_024447251.1:c.587-32_600delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XR_001737190.1:n.1148-32_1161delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XR_001737192.1:n.960-32_973delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XR_002956643.1:n.1140-32_1153delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XR_002956644.1:n.1675-32_1688delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| XR_946658.2:n.1248-32_1261delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048171.2:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001128425.2:c.1187-32_1200delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048172.2:c.1106-32_1119delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048173.2:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001048174.2:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293190.2:c.1148-32_1161delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293191.2:c.1136-32_1149delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293192.2:c.827-32_840delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293195.2:c.1103-32_1116delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001293196.2:c.827-32_840delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001350650.2:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_001350651.2:c.758-32_771delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NM_012222.3:c.1178-32_1191delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NR_146882.2:n.1331-32_1344delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA | ||
| NR_146883.2:n.1180-32_1193delinsCCTGACCCCTGCCTGGCTGCCCTCCCTCTCAGGTCTGCTGGCAGGA |