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.5986766_5986767del , CM000669.2:g.5986766_5986767del | GRCh38 |
| NC_000007.13:g.6026397_6026398del , CM000669.1:g.6026397_6026398del | GRCh37 |
| NC_000007.12:g.5992923_5992924del | NCBI36 |
| NG_008466.1:g.27343_27344del , LRG_161:g.27343_27344del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1397_*1398del | ENSP00000514615.2:n.*1397_*1398del | |
| ENST00000699840.2:c.1998_1999del | ENSP00000514638.2:p.Glu666AspfsTer3 | |
| ENST00000699930.2:c.1893_1894del | ENSP00000514695.2:p.Glu631AspfsTer3 | |
| ENST00000406569.8:c.1678+323_1678+324del | ENSP00000514464.1:n.1678+323_1678+324del | |
| ENST00000644110.2:c.*1595_*1596del | ENSP00000496392.2:n.*1595_*1596del | |
| ENST00000699752.1:c.1845_1846del | ENSP00000514561.1:p.Glu615AspfsTer3 | |
| ENST00000699753.1:c.*1422_*1423del | ENSP00000514562.1:n.*1422_*1423del | |
| ENST00000699754.1:c.1803_1804del | ENSP00000514563.1:p.Glu601AspfsTer3 | |
| ENST00000699755.1:c.*1400_*1401del | ENSP00000514564.1:n.*1400_*1401del | |
| ENST00000699756.1:c.*1588_*1589del | ENSP00000514565.1:n.*1588_*1589del | |
| ENST00000699757.1:c.*1258_*1259del | ENSP00000514566.1:n.*1258_*1259del | |
| ENST00000699758.1:c.*1258_*1259del | ENSP00000514567.1:n.*1258_*1259del | |
| ENST00000699759.1:n.2855_2856del | ||
| ENST00000699760.1:c.1683_1684del | ENSP00000514568.1:p.Glu561AspfsTer3 | |
| ENST00000699761.1:c.1596_1597del | ENSP00000514569.1:p.Glu532AspfsTer3 | |
| ENST00000699762.1:c.1428_1429del | ENSP00000514570.1:p.Glu476AspfsTer3 | |
| ENST00000699763.1:c.*1091_*1092del | ENSP00000514571.1:n.*1091_*1092del | |
| ENST00000699764.1:c.*319_*320del | ENSP00000514572.1:n.*319_*320del | |
| ENST00000699765.1:c.*1097_*1098del | ENSP00000514573.1:n.*1097_*1098del | |
| ENST00000699766.1:c.2001_2002del | ENSP00000514574.1:p.Glu667AspfsTer3 | |
| ENST00000699767.1:c.2001_2002del | ENSP00000514575.1:p.Glu667AspfsTer3 | |
| ENST00000699768.1:c.2001_2002del | ENSP00000514576.1:p.Glu667AspfsTer3 | |
| ENST00000699811.1:c.1596_1597del | ENSP00000514614.1:p.Glu532AspfsTer3 | |
| ENST00000699813.1:n.2114_2115del | ||
| ENST00000699814.1:c.1624_1625del | ||
| ENST00000699815.1:c.*1532_*1533del | ENSP00000514616.1:n.*1532_*1533del | |
| ENST00000699816.1:c.*891_*892del | ENSP00000514617.1:n.*891_*892del | |
| ENST00000699817.1:c.*1595_*1596del | ENSP00000514618.1:n.*1595_*1596del | |
| ENST00000699818.1:c.1596_1597del | ENSP00000514619.1:p.Glu532AspfsTer3 | |
| ENST00000699819.1:c.*1158_*1159del | ENSP00000514620.1:n.*1158_*1159del | |
| ENST00000699820.1:c.1144+3036_1144+3037del | ENSP00000514621.1:n.1144+3036_1144+3037de... | |
| ENST00000699821.1:c.1596_1597del | ENSP00000514622.1:p.Glu532AspfsTer3 | |
| ENST00000699822.1:c.*1453_*1454del | ENSP00000514623.1:n.*1453_*1454del | |
| ENST00000699823.1:c.1596_1597del | ENSP00000514624.1:p.Glu532AspfsTer3 | |
| ENST00000699824.1:c.*1504_*1505del | ENSP00000514625.1:n.*1504_*1505del | |
| ENST00000699825.1:c.1440_1441del | ENSP00000514626.1:p.Glu480AspfsTer3 | |
| ENST00000699826.1:c.*1400_*1401del | ENSP00000514627.1:n.*1400_*1401del | |
| ENST00000699827.1:c.1833_1834del | ENSP00000514628.1:p.Glu611AspfsTer3 | |
| ENST00000699828.1:c.*1091_*1092del | ENSP00000514629.1:n.*1091_*1092del | |
| ENST00000699833.1:n.3773_3774del | ||
| ENST00000699837.1:c.1596_1597del | ENSP00000514635.1:p.Glu532AspfsTer3 | |
| ENST00000699838.1:c.*1901_*1902del | ENSP00000514636.1:n.*1901_*1902del | |
| ENST00000699839.1:c.2187_2188del | ENSP00000514637.1:p.Glu729AspfsTer3 | |
| ENST00000699916.1:c.*1258_*1259del | ENSP00000514684.1:n.*1258_*1259del | |
| ENST00000699917.1:c.*1450_*1451del | ENSP00000514685.1:n.*1450_*1451del | |
| ENST00000699918.1:c.*1502_*1503del | ENSP00000514686.1:n.*1502_*1503del | |
| ENST00000699919.1:c.*1588_*1589del | ENSP00000514687.1:n.*1588_*1589del | |
| ENST00000699920.1:c.*1637_*1638del | ENSP00000514688.1:n.*1637_*1638del | |
| ENST00000699928.1:c.989-3773_989-3772del | ENSP00000514693.1:n.989-3773_989-3772del | |
| ENST00000699951.1:c.*1097_*1098del | ENSP00000514706.1:n.*1097_*1098del | |
| ENST00000699952.1:c.803+10562_803+10563del | ENSP00000514707.1:n.803+10562_803+10563de... | |
| ENST00000265849.12:c.2001_2002del MANE Select | ENSP00000265849.7:p.Glu667AspfsTer3 | |
| ENST00000642292.1:c.1596_1597del | ENSP00000495524.1:p.Glu532AspfsTer3 | |
| ENST00000642456.1:c.1596_1597del | ENSP00000493814.1:p.Glu532AspfsTer3 | |
| ENST00000643595.1:c.*1400_*1401del | ENSP00000494497.1:n.*1400_*1401del | |
| ENST00000644110.1:c.1683_1684del | ENSP00000496392.1:p.Glu561AspfsTer3 | |
| ENST00000265849.11:c.2001_2002del | ENSP00000265849.7:p.Glu667AspfsTer3 | |
| ENST00000382321.5:c.804-3773_804-3772del | ENSP00000371758.4:n.804-3773_804-3772del | |
| ENST00000406569.7:n.1678+323_1678+324del | ||
| ENST00000441476.6:c.1683_1684del | ENSP00000392843.2:p.Glu561AspfsTer3 | |
| ENST00000469652.1:n.63-3859_63-3858del | ||
| NM_000535.5:c.2001_2002del , LRG_161t1:c.2001_2002del | NP_000526.1:p.Glu667AspfsTer3 | |
| NR_003085.2:n.2083_2084del | ||
| XM_006715742.2:c.1995_1996del | XP_006715805.1:p.Glu665AspfsTer3 | |
| XM_006715744.2:c.1068_1069del | XP_006715807.1:p.Glu356AspfsTer3 | |
| XM_011515427.1:c.2046_2047del | XP_011513729.1:p.Glu682AspfsTer3 | |
| XM_011515428.1:c.1890_1891del | XP_011513730.1:p.Glu630AspfsTer3 | |
| XM_011515429.1:c.1683_1684del | XP_011513731.1:p.Glu561AspfsTer3 | |
| XM_011515430.1:c.1683_1684del | XP_011513732.1:p.Glu561AspfsTer3 | |
| NM_000535.6:c.2001_2002del | NP_000526.2:p.Glu667AspfsTer3 | |
| NM_001322003.1:c.1596_1597del | NP_001308932.1:p.Glu532AspfsTer3 | |
| NM_001322004.1:c.1596_1597del | NP_001308933.1:p.Glu532AspfsTer3 | |
| NM_001322005.1:c.1596_1597del | NP_001308934.1:p.Glu532AspfsTer3 | |
| NM_001322006.1:c.1845_1846del | NP_001308935.1:p.Glu615AspfsTer3 | |
| NM_001322007.1:c.1683_1684del | NP_001308936.1:p.Glu561AspfsTer3 | |
| NM_001322008.1:c.1683_1684del | NP_001308937.1:p.Glu561AspfsTer3 | |
| NM_001322009.1:c.1596_1597del | NP_001308938.1:p.Glu532AspfsTer3 | |
| NM_001322010.1:c.1440_1441del | NP_001308939.1:p.Glu480AspfsTer3 | |
| NM_001322011.1:c.1068_1069del | NP_001308940.1:p.Glu356AspfsTer3 | |
| NM_001322012.1:c.1068_1069del | NP_001308941.1:p.Glu356AspfsTer3 | |
| NM_001322013.1:c.1428_1429del | NP_001308942.1:p.Glu476AspfsTer3 | |
| NM_001322014.1:c.2001_2002del | NP_001308943.1:p.Glu667AspfsTer3 | |
| NM_001322015.1:c.1692_1693del | NP_001308944.1:p.Glu564AspfsTer3 | |
| NR_136154.1:n.2088_2089del | ||
| XM_006715744.4:c.1068_1069del | XP_006715807.1:p.Glu356AspfsTer3 | |
| XM_017012342.2:c.1068_1069del | XP_016867831.1:p.Glu356AspfsTer3 | |
| XM_024446800.1:c.1440_1441del | XP_024302568.1:p.Glu480AspfsTer3 | |
| NM_000535.7:c.2001_2002del MANE Select | NP_000526.2:p.Glu667AspfsTer3 | |
| NM_001322003.2:c.1596_1597del | NP_001308932.1:p.Glu532AspfsTer3 | |
| NM_001322004.2:c.1596_1597del | NP_001308933.1:p.Glu532AspfsTer3 | |
| NM_001322005.2:c.1596_1597del | NP_001308934.1:p.Glu532AspfsTer3 | |
| NM_001322006.2:c.1845_1846del | NP_001308935.1:p.Glu615AspfsTer3 | |
| NM_001322008.2:c.1683_1684del | NP_001308937.1:p.Glu561AspfsTer3 | |
| NM_001322009.2:c.1596_1597del | NP_001308938.1:p.Glu532AspfsTer3 | |
| NM_001322010.2:c.1440_1441del | NP_001308939.1:p.Glu480AspfsTer3 | |
| NM_001322011.2:c.1068_1069del | NP_001308940.1:p.Glu356AspfsTer3 | |
| NM_001322012.2:c.1068_1069del | NP_001308941.1:p.Glu356AspfsTer3 | |
| NM_001322013.2:c.1428_1429del | NP_001308942.1:p.Glu476AspfsTer3 | |
| NM_001322014.2:c.2001_2002del | NP_001308943.1:p.Glu667AspfsTer3 | |
| NM_001322015.2:c.1692_1693del | NP_001308944.1:p.Glu564AspfsTer3 | |
| NM_001322007.2:c.1683_1684del | NP_001308936.1:p.Glu561AspfsTer3 |