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.5986761dup , CM000669.2:g.5986761dup | GRCh38 |
| NC_000007.13:g.6026392dup , CM000669.1:g.6026392dup | GRCh37 |
| NC_000007.12:g.5992918dup | NCBI36 |
| NG_008466.1:g.27347dup , LRG_161:g.27347dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1401dup | ENSP00000514615.2:n.*1401dup | |
| ENST00000699840.2:c.2002dup | ENSP00000514638.2:p.Ser668LysfsTer2 | |
| ENST00000699930.2:c.1897dup | ENSP00000514695.2:p.Ser633LysfsTer2 | |
| ENST00000406569.8:c.1678+327dup | ENSP00000514464.1:n.1678+327dup | |
| ENST00000644110.2:c.*1599dup | ENSP00000496392.2:n.*1599dup | |
| ENST00000699752.1:c.1849dup | ENSP00000514561.1:p.Ser617LysfsTer2 | |
| ENST00000699753.1:c.*1426dup | ENSP00000514562.1:n.*1426dup | |
| ENST00000699754.1:c.1807dup | ENSP00000514563.1:p.Ser603LysfsTer2 | |
| ENST00000699755.1:c.*1404dup | ENSP00000514564.1:n.*1404dup | |
| ENST00000699756.1:c.*1592dup | ENSP00000514565.1:n.*1592dup | |
| ENST00000699757.1:c.*1262dup | ENSP00000514566.1:n.*1262dup | |
| ENST00000699758.1:c.*1262dup | ENSP00000514567.1:n.*1262dup | |
| ENST00000699759.1:n.2859dup | ||
| ENST00000699760.1:c.1687dup | ENSP00000514568.1:p.Ser563LysfsTer2 | |
| ENST00000699761.1:c.1600dup | ENSP00000514569.1:p.Ser534LysfsTer2 | |
| ENST00000699762.1:c.1432dup | ENSP00000514570.1:p.Ser478LysfsTer2 | |
| ENST00000699763.1:c.*1095dup | ENSP00000514571.1:n.*1095dup | |
| ENST00000699764.1:c.*323dup | ENSP00000514572.1:n.*323dup | |
| ENST00000699765.1:c.*1101dup | ENSP00000514573.1:n.*1101dup | |
| ENST00000699766.1:c.2005dup | ENSP00000514574.1:p.Ser669LysfsTer2 | |
| ENST00000699767.1:c.2005dup | ENSP00000514575.1:p.Ser669LysfsTer2 | |
| ENST00000699768.1:c.2005dup | ENSP00000514576.1:p.Ser669LysfsTer2 | |
| ENST00000699811.1:c.1600dup | ENSP00000514614.1:p.Ser534LysfsTer2 | |
| ENST00000699813.1:n.2118dup | ||
| ENST00000699814.1:c.1628dup | ||
| ENST00000699815.1:c.*1536dup | ENSP00000514616.1:n.*1536dup | |
| ENST00000699816.1:c.*895dup | ENSP00000514617.1:n.*895dup | |
| ENST00000699817.1:c.*1599dup | ENSP00000514618.1:n.*1599dup | |
| ENST00000699818.1:c.1600dup | ENSP00000514619.1:p.Ser534LysfsTer2 | |
| ENST00000699819.1:c.*1162dup | ENSP00000514620.1:n.*1162dup | |
| ENST00000699820.1:c.1144+3040dup | ENSP00000514621.1:n.1144+3040dup | |
| ENST00000699821.1:c.1600dup | ENSP00000514622.1:p.Ser534LysfsTer2 | |
| ENST00000699822.1:c.*1457dup | ENSP00000514623.1:n.*1457dup | |
| ENST00000699823.1:c.1600dup | ENSP00000514624.1:p.Ser534LysfsTer2 | |
| ENST00000699824.1:c.*1508dup | ENSP00000514625.1:n.*1508dup | |
| ENST00000699825.1:c.1444dup | ENSP00000514626.1:p.Ser482LysfsTer2 | |
| ENST00000699826.1:c.*1404dup | ENSP00000514627.1:n.*1404dup | |
| ENST00000699827.1:c.1837dup | ENSP00000514628.1:p.Ser613LysfsTer2 | |
| ENST00000699828.1:c.*1095dup | ENSP00000514629.1:n.*1095dup | |
| ENST00000699833.1:n.3777dup | ||
| ENST00000699837.1:c.1600dup | ENSP00000514635.1:p.Ser534LysfsTer2 | |
| ENST00000699838.1:c.*1905dup | ENSP00000514636.1:n.*1905dup | |
| ENST00000699839.1:c.2191dup | ENSP00000514637.1:p.Ser731LysfsTer2 | |
| ENST00000699916.1:c.*1262dup | ENSP00000514684.1:n.*1262dup | |
| ENST00000699917.1:c.*1454dup | ENSP00000514685.1:n.*1454dup | |
| ENST00000699918.1:c.*1506dup | ENSP00000514686.1:n.*1506dup | |
| ENST00000699919.1:c.*1592dup | ENSP00000514687.1:n.*1592dup | |
| ENST00000699920.1:c.*1641dup | ENSP00000514688.1:n.*1641dup | |
| ENST00000699928.1:c.989-3769dup | ENSP00000514693.1:n.989-3769dup | |
| ENST00000699951.1:c.*1101dup | ENSP00000514706.1:n.*1101dup | |
| ENST00000699952.1:c.803+10566dup | ENSP00000514707.1:n.803+10566dup | |
| ENST00000265849.12:c.2005dup MANE Select | ENSP00000265849.7:p.Ser669LysfsTer2 | |
| ENST00000642292.1:c.1600dup | ENSP00000495524.1:p.Ser534LysfsTer2 | |
| ENST00000642456.1:c.1600dup | ENSP00000493814.1:p.Ser534LysfsTer2 | |
| ENST00000643595.1:c.*1404dup | ENSP00000494497.1:n.*1404dup | |
| ENST00000644110.1:c.1687dup | ENSP00000496392.1:p.Ser563LysfsTer2 | |
| ENST00000265849.11:c.2005dup | ENSP00000265849.7:p.Ser669LysfsTer2 | |
| ENST00000382321.5:c.804-3769dup | ENSP00000371758.4:n.804-3769dup | |
| ENST00000406569.7:n.1678+327dup | ||
| ENST00000441476.6:c.1687dup | ENSP00000392843.2:p.Ser563LysfsTer2 | |
| ENST00000469652.1:n.63-3855dup | ||
| NM_000535.5:c.2005dup , LRG_161t1:c.2005dup | NP_000526.1:p.Ser669LysfsTer2 | |
| NR_003085.2:n.2087dup | ||
| XM_006715742.2:c.1999dup | XP_006715805.1:p.Ser667LysfsTer2 | |
| XM_006715744.2:c.1072dup | XP_006715807.1:p.Ser358LysfsTer2 | |
| XM_011515427.1:c.2050dup | XP_011513729.1:p.Ser684LysfsTer2 | |
| XM_011515428.1:c.1894dup | XP_011513730.1:p.Ser632LysfsTer2 | |
| XM_011515429.1:c.1687dup | XP_011513731.1:p.Ser563LysfsTer2 | |
| XM_011515430.1:c.1687dup | XP_011513732.1:p.Ser563LysfsTer2 | |
| NM_000535.6:c.2005dup | NP_000526.2:p.Ser669LysfsTer2 | |
| NM_001322003.1:c.1600dup | NP_001308932.1:p.Ser534LysfsTer2 | |
| NM_001322004.1:c.1600dup | NP_001308933.1:p.Ser534LysfsTer2 | |
| NM_001322005.1:c.1600dup | NP_001308934.1:p.Ser534LysfsTer2 | |
| NM_001322006.1:c.1849dup | NP_001308935.1:p.Ser617LysfsTer2 | |
| NM_001322007.1:c.1687dup | NP_001308936.1:p.Ser563LysfsTer2 | |
| NM_001322008.1:c.1687dup | NP_001308937.1:p.Ser563LysfsTer2 | |
| NM_001322009.1:c.1600dup | NP_001308938.1:p.Ser534LysfsTer2 | |
| NM_001322010.1:c.1444dup | NP_001308939.1:p.Ser482LysfsTer2 | |
| NM_001322011.1:c.1072dup | NP_001308940.1:p.Ser358LysfsTer2 | |
| NM_001322012.1:c.1072dup | NP_001308941.1:p.Ser358LysfsTer2 | |
| NM_001322013.1:c.1432dup | NP_001308942.1:p.Ser478LysfsTer2 | |
| NM_001322014.1:c.2005dup | NP_001308943.1:p.Ser669LysfsTer2 | |
| NM_001322015.1:c.1696dup | NP_001308944.1:p.Ser566LysfsTer2 | |
| NR_136154.1:n.2092dup | ||
| XM_006715744.4:c.1072dup | XP_006715807.1:p.Ser358LysfsTer2 | |
| XM_017012342.2:c.1072dup | XP_016867831.1:p.Ser358LysfsTer2 | |
| XM_024446800.1:c.1444dup | XP_024302568.1:p.Ser482LysfsTer2 | |
| NM_000535.7:c.2005dup MANE Select | NP_000526.2:p.Ser669LysfsTer2 | |
| NM_001322003.2:c.1600dup | NP_001308932.1:p.Ser534LysfsTer2 | |
| NM_001322004.2:c.1600dup | NP_001308933.1:p.Ser534LysfsTer2 | |
| NM_001322005.2:c.1600dup | NP_001308934.1:p.Ser534LysfsTer2 | |
| NM_001322006.2:c.1849dup | NP_001308935.1:p.Ser617LysfsTer2 | |
| NM_001322008.2:c.1687dup | NP_001308937.1:p.Ser563LysfsTer2 | |
| NM_001322009.2:c.1600dup | NP_001308938.1:p.Ser534LysfsTer2 | |
| NM_001322010.2:c.1444dup | NP_001308939.1:p.Ser482LysfsTer2 | |
| NM_001322011.2:c.1072dup | NP_001308940.1:p.Ser358LysfsTer2 | |
| NM_001322012.2:c.1072dup | NP_001308941.1:p.Ser358LysfsTer2 | |
| NM_001322013.2:c.1432dup | NP_001308942.1:p.Ser478LysfsTer2 | |
| NM_001322014.2:c.2005dup | NP_001308943.1:p.Ser669LysfsTer2 | |
| NM_001322015.2:c.1696dup | NP_001308944.1:p.Ser566LysfsTer2 | |
| NM_001322007.2:c.1687dup | NP_001308936.1:p.Ser563LysfsTer2 |