UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977628_5977629delinsCG , CM000669.2:g.5977628_5977629delinsCG | GRCh38 |
| NC_000007.13:g.6017259_6017260delinsCG , CM000669.1:g.6017259_6017260delinsCG | GRCh37 |
| NC_000007.12:g.5983785_5983786delinsCG | NCBI36 |
| NG_008466.1:g.36478_36479delinsCG , LRG_161:g.36478_36479delinsCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1800_*1801delinsCG | ENSP00000514615.2:n.*1800_*1801delinsCG | |
| ENST00000699840.2:c.2401_2402delinsCG | ENSP00000514638.2:p.Arg801= | |
| ENST00000699930.2:c.2296_2297delinsCG | ENSP00000514695.2:p.Arg766= | |
| ENST00000406569.8:c.1764_1765delinsCG | ENSP00000514464.1:n.1764_1765delinsCG | |
| ENST00000644110.2:c.*1998_*1999delinsCG | ENSP00000496392.2:n.*1998_*1999delinsCG | |
| ENST00000699752.1:c.2248_2249delinsCG | ENSP00000514561.1:p.Arg750= | |
| ENST00000699753.1:c.*1825_*1826delinsCG | ENSP00000514562.1:n.*1825_*1826delinsCG | |
| ENST00000699754.1:c.2206_2207delinsCG | ENSP00000514563.1:p.Arg736= | |
| ENST00000699755.1:c.*1803_*1804delinsCG | ENSP00000514564.1:n.*1803_*1804delinsCG | |
| ENST00000699756.1:c.*1991_*1992delinsCG | ENSP00000514565.1:n.*1991_*1992delinsCG | |
| ENST00000699757.1:c.*1661_*1662delinsCG | ENSP00000514566.1:n.*1661_*1662delinsCG | |
| ENST00000699758.1:c.*1661_*1662delinsCG | ENSP00000514567.1:n.*1661_*1662delinsCG | |
| ENST00000699759.1:n.3258_3259delinsCG | ||
| ENST00000699760.1:c.2086_2087delinsCG | ENSP00000514568.1:p.Arg696= | |
| ENST00000699761.1:c.1999_2000delinsCG | ENSP00000514569.1:p.Arg667= | |
| ENST00000699762.1:c.1831_1832delinsCG | ENSP00000514570.1:p.Arg611= | |
| ENST00000699763.1:c.*1494_*1495delinsCG | ENSP00000514571.1:n.*1494_*1495delinsCG | |
| ENST00000699764.1:c.*722_*723delinsCG | ENSP00000514572.1:n.*722_*723delinsCG | |
| ENST00000699765.1:c.*1399_*1400delinsCG | ENSP00000514573.1:n.*1399_*1400delinsCG | |
| ENST00000699766.1:c.2437_2438delinsCG | ENSP00000514574.1:p.Arg813= | |
| ENST00000699767.1:c.*45_*46delinsCG | ENSP00000514575.1:n.*45_*46delinsCG | |
| ENST00000699768.1:c.2260_2261delinsCG | ENSP00000514576.1:p.Arg754= | |
| ENST00000699811.1:c.1999_2000delinsCG | ENSP00000514614.1:p.Arg667= | |
| ENST00000699813.1:n.2517_2518delinsCG | ||
| ENST00000699814.1:c.2027_2028delinsCG | ||
| ENST00000699815.1:c.*1935_*1936delinsCG | ENSP00000514616.1:n.*1935_*1936delinsCG | |
| ENST00000699816.1:c.*1294_*1295delinsCG | ENSP00000514617.1:n.*1294_*1295delinsCG | |
| ENST00000699817.1:c.*1998_*1999delinsCG | ENSP00000514618.1:n.*1998_*1999delinsCG | |
| ENST00000699818.1:c.1999_2000delinsCG | ENSP00000514619.1:p.Arg667= | |
| ENST00000699819.1:c.*1561_*1562delinsCG | ENSP00000514620.1:n.*1561_*1562delinsCG | |
| ENST00000699820.1:c.*342_*343delinsCG | ENSP00000514621.1:n.*342_*343delinsCG | |
| ENST00000699821.1:c.2032_2033delinsCG | ENSP00000514622.1:p.Arg678= | |
| ENST00000699822.1:c.*1856_*1857delinsCG | ENSP00000514623.1:n.*1856_*1857delinsCG | |
| ENST00000699823.1:c.1999_2000delinsCG | ENSP00000514624.1:p.Arg667= | |
| ENST00000699824.1:c.*1907_*1908delinsCG | ENSP00000514625.1:n.*1907_*1908delinsCG | |
| ENST00000699825.1:c.1843_1844delinsCG | ENSP00000514626.1:p.Arg615= | |
| ENST00000699826.1:c.*1803_*1804delinsCG | ENSP00000514627.1:n.*1803_*1804delinsCG | |
| ENST00000699827.1:c.2236_2237delinsCG | ENSP00000514628.1:p.Arg746= | |
| ENST00000699828.1:c.*1494_*1495delinsCG | ENSP00000514629.1:n.*1494_*1495delinsCG | |
| ENST00000699833.1:n.4176_4177delinsCG | ||
| ENST00000699837.1:c.1999_2000delinsCG | ENSP00000514635.1:p.Arg667= | |
| ENST00000699838.1:c.*2304_*2305delinsCG | ENSP00000514636.1:n.*2304_*2305delinsCG | |
| ENST00000699839.1:c.2590_2591delinsCG | ENSP00000514637.1:p.Arg864= | |
| ENST00000699916.1:c.*1661_*1662delinsCG | ENSP00000514684.1:n.*1661_*1662delinsCG | |
| ENST00000699917.1:c.*1853_*1854delinsCG | ENSP00000514685.1:n.*1853_*1854delinsCG | |
| ENST00000699918.1:c.*1905_*1906delinsCG | ENSP00000514686.1:n.*1905_*1906delinsCG | |
| ENST00000699919.1:c.*1991_*1992delinsCG | ENSP00000514687.1:n.*1991_*1992delinsCG | |
| ENST00000699920.1:c.*2040_*2041delinsCG | ENSP00000514688.1:n.*2040_*2041delinsCG | |
| ENST00000699928.1:c.*342_*343delinsCG | ENSP00000514693.1:n.*342_*343delinsCG | |
| ENST00000699951.1:c.*1457_*1458delinsCG | ENSP00000514706.1:n.*1457_*1458delinsCG | |
| ENST00000699952.1:c.804-4087_804-4086delinsCG | ENSP00000514707.1:n.804-4087_804-4086delinsCG | |
| ENST00000265849.12:c.2404_2405delinsCG MANE Select | ENSP00000265849.7:p.Arg802= | |
| ENST00000642292.1:c.1999_2000delinsCG | ENSP00000495524.1:p.Arg667= | |
| ENST00000642456.1:c.1999_2000delinsCG | ENSP00000493814.1:p.Arg667= | |
| ENST00000643595.1:c.*1803_*1804delinsCG | ENSP00000494497.1:n.*1803_*1804delinsCG | |
| ENST00000644110.1:c.2086_2087delinsCG | ENSP00000496392.1:p.Arg696= | |
| ENST00000265849.11:c.2404_2405delinsCG | ENSP00000265849.7:p.Arg802= | |
| ENST00000382321.5:c.1201_1202delinsCG | ENSP00000371758.4:p.Arg401= | |
| ENST00000441476.6:c.2086_2087delinsCG | ENSP00000392843.2:p.Arg696= | |
| NM_000535.5:c.2404_2405delinsCG , LRG_161t1:c.2404_2405delinsCG | NP_000526.1:p.Arg802= | |
| NR_003085.2:n.2486_2487delinsCG | ||
| XM_006715742.2:c.2398_2399delinsCG | XP_006715805.1:p.Arg800= | |
| XM_006715744.2:c.1471_1472delinsCG | XP_006715807.1:p.Arg491= | |
| XM_011515427.1:c.2449_2450delinsCG | XP_011513729.1:p.Arg817= | |
| XM_011515428.1:c.2293_2294delinsCG | XP_011513730.1:p.Arg765= | |
| XM_011515429.1:c.2086_2087delinsCG | XP_011513731.1:p.Arg696= | |
| XM_011515430.1:c.2086_2087delinsCG | XP_011513732.1:p.Arg696= | |
| NM_000535.6:c.2404_2405delinsCG | NP_000526.2:p.Arg802= | |
| NM_001322003.1:c.1999_2000delinsCG | NP_001308932.1:p.Arg667= | |
| NM_001322004.1:c.1999_2000delinsCG | NP_001308933.1:p.Arg667= | |
| NM_001322005.1:c.1999_2000delinsCG | NP_001308934.1:p.Arg667= | |
| NM_001322006.1:c.2248_2249delinsCG | NP_001308935.1:p.Arg750= | |
| NM_001322007.1:c.2086_2087delinsCG | NP_001308936.1:p.Arg696= | |
| NM_001322008.1:c.2086_2087delinsCG | NP_001308937.1:p.Arg696= | |
| NM_001322009.1:c.2032_2033delinsCG | NP_001308938.1:p.Arg678= | |
| NM_001322010.1:c.1843_1844delinsCG | NP_001308939.1:p.Arg615= | |
| NM_001322011.1:c.1471_1472delinsCG | NP_001308940.1:p.Arg491= | |
| NM_001322012.1:c.1471_1472delinsCG | NP_001308941.1:p.Arg491= | |
| NM_001322013.1:c.1831_1832delinsCG | NP_001308942.1:p.Arg611= | |
| NM_001322014.1:c.2437_2438delinsCG | NP_001308943.1:p.Arg813= | |
| NM_001322015.1:c.2095_2096delinsCG | NP_001308944.1:p.Arg699= | |
| NR_136154.1:n.2448_2449delinsCG | ||
| XM_006715744.4:c.1471_1472delinsCG | XP_006715807.1:p.Arg491= | |
| XM_017012342.2:c.1471_1472delinsCG | XP_016867831.1:p.Arg491= | |
| XM_024446800.1:c.1843_1844delinsCG | XP_024302568.1:p.Arg615= | |
| NM_000535.7:c.2404_2405delinsCG MANE Select | NP_000526.2:p.Arg802= | |
| NM_001322003.2:c.1999_2000delinsCG | NP_001308932.1:p.Arg667= | |
| NM_001322004.2:c.1999_2000delinsCG | NP_001308933.1:p.Arg667= | |
| NM_001322005.2:c.1999_2000delinsCG | NP_001308934.1:p.Arg667= | |
| NM_001322006.2:c.2248_2249delinsCG | NP_001308935.1:p.Arg750= | |
| NM_001322008.2:c.2086_2087delinsCG | NP_001308937.1:p.Arg696= | |
| NM_001322009.2:c.2032_2033delinsCG | NP_001308938.1:p.Arg678= | |
| NM_001322010.2:c.1843_1844delinsCG | NP_001308939.1:p.Arg615= | |
| NM_001322011.2:c.1471_1472delinsCG | NP_001308940.1:p.Arg491= | |
| NM_001322012.2:c.1471_1472delinsCG | NP_001308941.1:p.Arg491= | |
| NM_001322013.2:c.1831_1832delinsCG | NP_001308942.1:p.Arg611= | |
| NM_001322014.2:c.2437_2438delinsCG | NP_001308943.1:p.Arg813= | |
| NM_001322015.2:c.2095_2096delinsCG | NP_001308944.1:p.Arg699= | |
| NM_001322007.2:c.2086_2087delinsCG | NP_001308936.1:p.Arg696= |