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_000007.14:g.5989617_5989618insG , CM000669.2:g.5989617_5989618insG | GRCh38 |
| NC_000007.13:g.6029248_6029249insG , CM000669.1:g.6029248_6029249insG | GRCh37 |
| NC_000007.12:g.5995774_5995775insG | NCBI36 |
| NG_008466.1:g.24489_24490insC , LRG_161:g.24489_24490insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*540+182_*540+183insC | ENSP00000514615.2:n.*540+182_*540+183insC... | |
| ENST00000699840.2:c.1141+182_1141+183insC | ENSP00000514638.2:n.1141+182_1141+183insC... | |
| ENST00000699930.2:c.1036+182_1036+183insC | ENSP00000514695.2:n.1036+182_1036+183insC... | |
| ENST00000406569.8:c.1144+182_1144+183insC | ENSP00000514464.1:n.1144+182_1144+183insC... | |
| ENST00000644110.2:c.*738+182_*738+183insC | ENSP00000496392.2:n.*738+182_*738+183insC... | |
| ENST00000699752.1:c.989-1998_989-1997insC | ENSP00000514561.1:n.989-1998_989-1997insC... | |
| ENST00000699753.1:c.*565+182_*565+183insC | ENSP00000514562.1:n.*565+182_*565+183insC... | |
| ENST00000699754.1:c.946+182_946+183insC | ENSP00000514563.1:n.946+182_946+183insC | |
| ENST00000699755.1:c.*543+182_*543+183insC | ENSP00000514564.1:n.*543+182_*543+183insC... | |
| ENST00000699756.1:c.*731+182_*731+183insC | ENSP00000514565.1:n.*731+182_*731+183insC... | |
| ENST00000699757.1:c.*401+182_*401+183insC | ENSP00000514566.1:n.*401+182_*401+183insC... | |
| ENST00000699758.1:c.*401+182_*401+183insC | ENSP00000514567.1:n.*401+182_*401+183insC... | |
| ENST00000699759.1:n.1998+182_1998+183insC | ||
| ENST00000699760.1:c.826+182_826+183insC | ENSP00000514568.1:n.826+182_826+183insC | |
| ENST00000699761.1:c.739+182_739+183insC | ENSP00000514569.1:n.739+182_739+183insC | |
| ENST00000699762.1:c.571+182_571+183insC | ENSP00000514570.1:n.571+182_571+183insC | |
| ENST00000699763.1:c.*234+182_*234+183insC | ENSP00000514571.1:n.*234+182_*234+183insC... | |
| ENST00000699764.1:c.1144+182_1144+183insC | ENSP00000514572.1:n.1144+182_1144+183insC... | |
| ENST00000699765.1:c.*240+182_*240+183insC | ENSP00000514573.1:n.*240+182_*240+183insC... | |
| ENST00000699766.1:c.1144+182_1144+183insC | ENSP00000514574.1:n.1144+182_1144+183insC... | |
| ENST00000699767.1:c.1144+182_1144+183insC | ENSP00000514575.1:n.1144+182_1144+183insC... | |
| ENST00000699768.1:c.1144+182_1144+183insC | ENSP00000514576.1:n.1144+182_1144+183insC... | |
| ENST00000699811.1:c.739+182_739+183insC | ENSP00000514614.1:n.739+182_739+183insC | |
| ENST00000699813.1:n.1257+182_1257+183insC | ||
| ENST00000699814.1:c.767+182_767+183insC | ||
| ENST00000699815.1:c.*636+182_*636+183insC | ENSP00000514616.1:n.*636+182_*636+183insC... | |
| ENST00000699816.1:c.739+182_739+183insC | ENSP00000514617.1:n.739+182_739+183insC | |
| ENST00000699817.1:c.*738+182_*738+183insC | ENSP00000514618.1:n.*738+182_*738+183insC... | |
| ENST00000699818.1:c.739+182_739+183insC | ENSP00000514619.1:n.739+182_739+183insC | |
| ENST00000699819.1:c.*301+182_*301+183insC | ENSP00000514620.1:n.*301+182_*301+183insC... | |
| ENST00000699820.1:c.1144+182_1144+183insC | ENSP00000514621.1:n.1144+182_1144+183insC... | |
| ENST00000699821.1:c.739+182_739+183insC | ENSP00000514622.1:n.739+182_739+183insC | |
| ENST00000699822.1:c.*596+182_*596+183insC | ENSP00000514623.1:n.*596+182_*596+183insC... | |
| ENST00000699823.1:c.739+182_739+183insC | ENSP00000514624.1:n.739+182_739+183insC | |
| ENST00000699824.1:c.*647+182_*647+183insC | ENSP00000514625.1:n.*647+182_*647+183insC... | |
| ENST00000699825.1:c.584-1998_584-1997insC | ENSP00000514626.1:n.584-1998_584-1997insC... | |
| ENST00000699826.1:c.*543+182_*543+183insC | ENSP00000514627.1:n.*543+182_*543+183insC... | |
| ENST00000699827.1:c.976+182_976+183insC | ENSP00000514628.1:n.976+182_976+183insC | |
| ENST00000699828.1:c.*234+182_*234+183insC | ENSP00000514629.1:n.*234+182_*234+183insC... | |
| ENST00000699829.1:c.*645+182_*645+183insC | ENSP00000514630.1:n.*645+182_*645+183insC... | |
| ENST00000699830.1:c.*543+182_*543+183insC | ENSP00000514631.1:n.*543+182_*543+183insC... | |
| ENST00000699833.1:n.2916+182_2916+183insC | ||
| ENST00000699837.1:c.739+182_739+183insC | ENSP00000514635.1:n.739+182_739+183insC | |
| ENST00000699838.1:c.*1044+182_*1044+183insC | ENSP00000514636.1:n.*1044+182_*1044+183in... | |
| ENST00000699839.1:c.1330+182_1330+183insC | ENSP00000514637.1:n.1330+182_1330+183insC... | |
| ENST00000699840.1:c.1141+182_1141+183insC | ENSP00000514638.1:n.1141+182_1141+183insC... | |
| ENST00000699916.1:c.*401+182_*401+183insC | ENSP00000514684.1:n.*401+182_*401+183insC... | |
| ENST00000699917.1:c.*593+182_*593+183insC | ENSP00000514685.1:n.*593+182_*593+183insC... | |
| ENST00000699918.1:c.*645+182_*645+183insC | ENSP00000514686.1:n.*645+182_*645+183insC... | |
| ENST00000699919.1:c.*731+182_*731+183insC | ENSP00000514687.1:n.*731+182_*731+183insC... | |
| ENST00000699920.1:c.*780+182_*780+183insC | ENSP00000514688.1:n.*780+182_*780+183insC... | |
| ENST00000699928.1:c.988+2355_988+2356insC | ENSP00000514693.1:n.988+2355_988+2356insC... | |
| ENST00000699929.1:c.*445+182_*445+183insC | ENSP00000514694.1:n.*445+182_*445+183insC... | |
| ENST00000699930.1:c.1036+182_1036+183insC | ENSP00000514695.1:n.1036+182_1036+183insC... | |
| ENST00000699931.1:n.2572+182_2572+183insC | ||
| ENST00000699932.1:c.*362+182_*362+183insC | ENSP00000514696.1:n.*362+182_*362+183insC... | |
| ENST00000699951.1:c.*240+182_*240+183insC | ENSP00000514706.1:n.*240+182_*240+183insC... | |
| ENST00000699952.1:c.803+7708_803+7709insC | ENSP00000514707.1:n.803+7708_803+7709insC... | |
| ENST00000699953.1:c.*251+182_*251+183insC | ENSP00000514708.1:n.*251+182_*251+183insC... | |
| ENST00000699954.1:c.*445+182_*445+183insC | ENSP00000514709.1:n.*445+182_*445+183insC... | |
| ENST00000265849.12:c.1144+182_1144+183insC MANE Select | ENSP00000265849.7:n.1144+182_1144+183insC... | |
| ENST00000642292.1:c.739+182_739+183insC | ENSP00000495524.1:n.739+182_739+183insC | |
| ENST00000642456.1:c.739+182_739+183insC | ENSP00000493814.1:n.739+182_739+183insC | |
| ENST00000643595.1:c.*543+182_*543+183insC | ENSP00000494497.1:n.*543+182_*543+183insC... | |
| ENST00000644110.1:c.826+182_826+183insC | ENSP00000496392.1:n.826+182_826+183insC | |
| ENST00000265849.11:c.1144+182_1144+183insC | ENSP00000265849.7:n.1144+182_1144+183insC... | |
| ENST00000382321.5:c.804-6627_804-6626insC | ENSP00000371758.4:n.804-6627_804-6626insC... | |
| ENST00000406569.7:n.1144+182_1144+183insC | ||
| ENST00000441476.6:c.826+182_826+183insC | ENSP00000392843.2:n.826+182_826+183insC | |
| ENST00000469652.1:n.63-6713_63-6712insC | ||
| NM_000535.5:c.1144+182_1144+183insC , LRG_161t1:c.1144+182_1144+183insC | NP_000526.1:n.1144+182_1144+183insC | |
| NR_003085.2:n.1226+182_1226+183insC | ||
| XM_006715742.2:c.1138+182_1138+183insC | XP_006715805.1:n.1138+182_1138+183insC | |
| XM_006715744.2:c.211+182_211+183insC | XP_006715807.1:n.211+182_211+183insC | |
| XM_011515427.1:c.1189+182_1189+183insC | XP_011513729.1:n.1189+182_1189+183insC | |
| XM_011515428.1:c.1034-1998_1034-1997insC | XP_011513730.1:n.1034-1998_1034-1997insC | |
| XM_011515429.1:c.826+182_826+183insC | XP_011513731.1:n.826+182_826+183insC | |
| XM_011515430.1:c.826+182_826+183insC | XP_011513732.1:n.826+182_826+183insC | |
| NM_000535.6:c.1144+182_1144+183insC | NP_000526.2:n.1144+182_1144+183insC | |
| NM_001322003.1:c.739+182_739+183insC | NP_001308932.1:n.739+182_739+183insC | |
| NM_001322004.1:c.739+182_739+183insC | NP_001308933.1:n.739+182_739+183insC | |
| NM_001322005.1:c.739+182_739+183insC | NP_001308934.1:n.739+182_739+183insC | |
| NM_001322006.1:c.989-1998_989-1997insC | NP_001308935.1:n.989-1998_989-1997insC | |
| NM_001322007.1:c.826+182_826+183insC | NP_001308936.1:n.826+182_826+183insC | |
| NM_001322008.1:c.826+182_826+183insC | NP_001308937.1:n.826+182_826+183insC | |
| NM_001322009.1:c.739+182_739+183insC | NP_001308938.1:n.739+182_739+183insC | |
| NM_001322010.1:c.584-1998_584-1997insC | NP_001308939.1:n.584-1998_584-1997insC | |
| NM_001322011.1:c.211+182_211+183insC | NP_001308940.1:n.211+182_211+183insC | |
| NM_001322012.1:c.211+182_211+183insC | NP_001308941.1:n.211+182_211+183insC | |
| NM_001322013.1:c.571+182_571+183insC | NP_001308942.1:n.571+182_571+183insC | |
| NM_001322014.1:c.1144+182_1144+183insC | NP_001308943.1:n.1144+182_1144+183insC | |
| NM_001322015.1:c.835+182_835+183insC | NP_001308944.1:n.835+182_835+183insC | |
| NR_136154.1:n.1231+182_1231+183insC | ||
| XM_006715744.4:c.211+182_211+183insC | XP_006715807.1:n.211+182_211+183insC | |
| XM_017012342.2:c.211+182_211+183insC | XP_016867831.1:n.211+182_211+183insC | |
| XM_024446800.1:c.584-1998_584-1997insC | XP_024302568.1:n.584-1998_584-1997insC | |
| NM_000535.7:c.1144+182_1144+183insC MANE Select | NP_000526.2:n.1144+182_1144+183insC | |
| NM_001322003.2:c.739+182_739+183insC | NP_001308932.1:n.739+182_739+183insC | |
| NM_001322004.2:c.739+182_739+183insC | NP_001308933.1:n.739+182_739+183insC | |
| NM_001322005.2:c.739+182_739+183insC | NP_001308934.1:n.739+182_739+183insC | |
| NM_001322006.2:c.989-1998_989-1997insC | NP_001308935.1:n.989-1998_989-1997insC | |
| NM_001322008.2:c.826+182_826+183insC | NP_001308937.1:n.826+182_826+183insC | |
| NM_001322009.2:c.739+182_739+183insC | NP_001308938.1:n.739+182_739+183insC | |
| NM_001322010.2:c.584-1998_584-1997insC | NP_001308939.1:n.584-1998_584-1997insC | |
| NM_001322011.2:c.211+182_211+183insC | NP_001308940.1:n.211+182_211+183insC | |
| NM_001322012.2:c.211+182_211+183insC | NP_001308941.1:n.211+182_211+183insC | |
| NM_001322013.2:c.571+182_571+183insC | NP_001308942.1:n.571+182_571+183insC | |
| NM_001322014.2:c.1144+182_1144+183insC | NP_001308943.1:n.1144+182_1144+183insC | |
| NM_001322015.2:c.835+182_835+183insC | NP_001308944.1:n.835+182_835+183insC | |
| NM_001322007.2:c.826+182_826+183insC | NP_001308936.1:n.826+182_826+183insC |