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.
Linked Data
ClinVar Variation Id:
127764
dbSNP Id:
rs587780043
gnomAD v3:
7-5987154-C-CTCCTGAGAGTCCACATGT
gnomAD v4:
7-5987154-C-CTCCTGAGAGTCCACATGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987160_5987177dup , CM000669.2:g.5987160_5987177dup | GRCh38 |
| NC_000007.13:g.6026791_6026808dup , CM000669.1:g.6026791_6026808dup | GRCh37 |
| NC_000007.12:g.5993317_5993334dup | NCBI36 |
| NG_008466.1:g.26935_26952dup , LRG_161:g.26935_26952dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*989_*1006dup | ENSP00000514615.2:n.*989_*1006dup | |
| ENST00000699840.2:c.1590_1607dup | ENSP00000514638.2:p.Glu536_Lys537insHisVa... | |
| ENST00000699930.2:c.1485_1502dup | ENSP00000514695.2:p.Glu501_Lys502insHisVa... | |
| ENST00000406569.8:c.1593_1610dup | ENSP00000514464.1:p.Glu537_Lys538insHisVa... | |
| ENST00000644110.2:c.*1187_*1204dup | ENSP00000496392.2:n.*1187_*1204dup | |
| ENST00000699752.1:c.1437_1454dup | ENSP00000514561.1:p.Glu485_Lys486insHisVa... | |
| ENST00000699753.1:c.*1014_*1031dup | ENSP00000514562.1:n.*1014_*1031dup | |
| ENST00000699754.1:c.1395_1412dup | ENSP00000514563.1:p.Glu471_Lys472insHisVa... | |
| ENST00000699755.1:c.*992_*1009dup | ENSP00000514564.1:n.*992_*1009dup | |
| ENST00000699756.1:c.*1180_*1197dup | ENSP00000514565.1:n.*1180_*1197dup | |
| ENST00000699757.1:c.*850_*867dup | ENSP00000514566.1:n.*850_*867dup | |
| ENST00000699758.1:c.*850_*867dup | ENSP00000514567.1:n.*850_*867dup | |
| ENST00000699759.1:n.2447_2464dup | ||
| ENST00000699760.1:c.1275_1292dup | ENSP00000514568.1:p.Glu431_Lys432insHisVa... | |
| ENST00000699761.1:c.1188_1205dup | ENSP00000514569.1:p.Glu402_Lys403insHisVa... | |
| ENST00000699762.1:c.1020_1037dup | ENSP00000514570.1:p.Glu346_Lys347insHisVa... | |
| ENST00000699763.1:c.*683_*700dup | ENSP00000514571.1:n.*683_*700dup | |
| ENST00000699764.1:c.1553+40_1554-33dup | ENSP00000514572.1:n.1553+40_1554-33dup | |
| ENST00000699765.1:c.*689_*706dup | ENSP00000514573.1:n.*689_*706dup | |
| ENST00000699766.1:c.1593_1610dup | ENSP00000514574.1:p.Glu537_Lys538insHisVa... | |
| ENST00000699767.1:c.1593_1610dup | ENSP00000514575.1:p.Glu537_Lys538insHisVa... | |
| ENST00000699768.1:c.1593_1610dup | ENSP00000514576.1:p.Glu537_Lys538insHisVa... | |
| ENST00000699811.1:c.1188_1205dup | ENSP00000514614.1:p.Glu402_Lys403insHisVa... | |
| ENST00000699813.1:n.1706_1723dup | ||
| ENST00000699814.1:c.1216_1233dup | ||
| ENST00000699815.1:c.*1124_*1141dup | ENSP00000514616.1:n.*1124_*1141dup | |
| ENST00000699816.1:c.*483_*500dup | ENSP00000514617.1:n.*483_*500dup | |
| ENST00000699817.1:c.*1187_*1204dup | ENSP00000514618.1:n.*1187_*1204dup | |
| ENST00000699818.1:c.1188_1205dup | ENSP00000514619.1:p.Glu402_Lys403insHisVa... | |
| ENST00000699819.1:c.*750_*767dup | ENSP00000514620.1:n.*750_*767dup | |
| ENST00000699820.1:c.1144+2628_1144+2645dup | ENSP00000514621.1:n.1144+2628_1144+2645du... | |
| ENST00000699821.1:c.1188_1205dup | ENSP00000514622.1:p.Glu402_Lys403insHisVa... | |
| ENST00000699822.1:c.*1045_*1062dup | ENSP00000514623.1:n.*1045_*1062dup | |
| ENST00000699823.1:c.1188_1205dup | ENSP00000514624.1:p.Glu402_Lys403insHisVa... | |
| ENST00000699824.1:c.*1096_*1113dup | ENSP00000514625.1:n.*1096_*1113dup | |
| ENST00000699825.1:c.1032_1049dup | ENSP00000514626.1:p.Glu350_Lys351insHisVa... | |
| ENST00000699826.1:c.*992_*1009dup | ENSP00000514627.1:n.*992_*1009dup | |
| ENST00000699827.1:c.1425_1442dup | ENSP00000514628.1:p.Glu481_Lys482insHisVa... | |
| ENST00000699828.1:c.*683_*700dup | ENSP00000514629.1:n.*683_*700dup | |
| ENST00000699833.1:n.3365_3382dup | ||
| ENST00000699837.1:c.1188_1205dup | ENSP00000514635.1:p.Glu402_Lys403insHisVa... | |
| ENST00000699838.1:c.*1493_*1510dup | ENSP00000514636.1:n.*1493_*1510dup | |
| ENST00000699839.1:c.1779_1796dup | ENSP00000514637.1:p.Glu599_Lys600insHisVa... | |
| ENST00000699916.1:c.*850_*867dup | ENSP00000514684.1:n.*850_*867dup | |
| ENST00000699917.1:c.*1042_*1059dup | ENSP00000514685.1:n.*1042_*1059dup | |
| ENST00000699918.1:c.*1094_*1111dup | ENSP00000514686.1:n.*1094_*1111dup | |
| ENST00000699919.1:c.*1180_*1197dup | ENSP00000514687.1:n.*1180_*1197dup | |
| ENST00000699920.1:c.*1229_*1246dup | ENSP00000514688.1:n.*1229_*1246dup | |
| ENST00000699928.1:c.989-4181_989-4164dup | ENSP00000514693.1:n.989-4181_989-4164dup | |
| ENST00000699929.1:c.*894_*911dup | ENSP00000514694.1:n.*894_*911dup | |
| ENST00000699930.1:c.1485_1502dup | ENSP00000514695.1:p.Glu501_Lys502insHisVa... | |
| ENST00000699931.1:n.3021_3038dup | ||
| ENST00000699951.1:c.*689_*706dup | ENSP00000514706.1:n.*689_*706dup | |
| ENST00000699952.1:c.803+10154_803+10171dup | ENSP00000514707.1:n.803+10154_803+10171du... | |
| ENST00000699953.1:c.*700_*717dup | ENSP00000514708.1:n.*700_*717dup | |
| ENST00000699954.1:c.*894_*911dup | ENSP00000514709.1:n.*894_*911dup | |
| ENST00000265849.12:c.1593_1610dup MANE Select | ENSP00000265849.7:p.Glu537_Lys538insHisVa... | |
| ENST00000642292.1:c.1188_1205dup | ENSP00000495524.1:p.Glu402_Lys403insHisVa... | |
| ENST00000642456.1:c.1188_1205dup | ENSP00000493814.1:p.Glu402_Lys403insHisVa... | |
| ENST00000643595.1:c.*992_*1009dup | ENSP00000494497.1:n.*992_*1009dup | |
| ENST00000644110.1:c.1275_1292dup | ENSP00000496392.1:p.Glu431_Lys432insHisVa... | |
| ENST00000265849.11:c.1593_1610dup | ENSP00000265849.7:p.Glu537_Lys538insHisVa... | |
| ENST00000382321.5:c.804-4181_804-4164dup | ENSP00000371758.4:n.804-4181_804-4164dup | |
| ENST00000406569.7:n.1593_1610dup | ||
| ENST00000441476.6:c.1275_1292dup | ENSP00000392843.2:p.Glu431_Lys432insHisVa... | |
| ENST00000469652.1:n.63-4267_63-4250dup | ||
| NM_000535.5:c.1593_1610dup , LRG_161t1:c.1593_1610dup | NP_000526.1:p.Glu537_Lys538insHisValAspSe... | |
| NR_003085.2:n.1675_1692dup | ||
| XM_006715742.2:c.1587_1604dup | XP_006715805.1:p.Glu535_Lys536insHisValAs... | |
| XM_006715744.2:c.660_677dup | XP_006715807.1:p.Glu226_Lys227insHisValAs... | |
| XM_011515427.1:c.1638_1655dup | XP_011513729.1:p.Glu552_Lys553insHisValAs... | |
| XM_011515428.1:c.1482_1499dup | XP_011513730.1:p.Glu500_Lys501insHisValAs... | |
| XM_011515429.1:c.1275_1292dup | XP_011513731.1:p.Glu431_Lys432insHisValAs... | |
| XM_011515430.1:c.1275_1292dup | XP_011513732.1:p.Glu431_Lys432insHisValAs... | |
| NM_000535.6:c.1593_1610dup | NP_000526.2:p.Glu537_Lys538insHisValAspSe... | |
| NM_001322003.1:c.1188_1205dup | NP_001308932.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322004.1:c.1188_1205dup | NP_001308933.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322005.1:c.1188_1205dup | NP_001308934.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322006.1:c.1437_1454dup | NP_001308935.1:p.Glu485_Lys486insHisValAs... | |
| NM_001322007.1:c.1275_1292dup | NP_001308936.1:p.Glu431_Lys432insHisValAs... | |
| NM_001322008.1:c.1275_1292dup | NP_001308937.1:p.Glu431_Lys432insHisValAs... | |
| NM_001322009.1:c.1188_1205dup | NP_001308938.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322010.1:c.1032_1049dup | NP_001308939.1:p.Glu350_Lys351insHisValAs... | |
| NM_001322011.1:c.660_677dup | NP_001308940.1:p.Glu226_Lys227insHisValAs... | |
| NM_001322012.1:c.660_677dup | NP_001308941.1:p.Glu226_Lys227insHisValAs... | |
| NM_001322013.1:c.1020_1037dup | NP_001308942.1:p.Glu346_Lys347insHisValAs... | |
| NM_001322014.1:c.1593_1610dup | NP_001308943.1:p.Glu537_Lys538insHisValAs... | |
| NM_001322015.1:c.1284_1301dup | NP_001308944.1:p.Glu434_Lys435insHisValAs... | |
| NR_136154.1:n.1680_1697dup | ||
| XM_006715744.4:c.660_677dup | XP_006715807.1:p.Glu226_Lys227insHisValAs... | |
| XM_017012342.2:c.660_677dup | XP_016867831.1:p.Glu226_Lys227insHisValAs... | |
| XM_024446800.1:c.1032_1049dup | XP_024302568.1:p.Glu350_Lys351insHisValAs... | |
| NM_000535.7:c.1593_1610dup MANE Select | NP_000526.2:p.Glu537_Lys538insHisValAspSe... | |
| NM_001322003.2:c.1188_1205dup | NP_001308932.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322004.2:c.1188_1205dup | NP_001308933.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322005.2:c.1188_1205dup | NP_001308934.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322006.2:c.1437_1454dup | NP_001308935.1:p.Glu485_Lys486insHisValAs... | |
| NM_001322008.2:c.1275_1292dup | NP_001308937.1:p.Glu431_Lys432insHisValAs... | |
| NM_001322009.2:c.1188_1205dup | NP_001308938.1:p.Glu402_Lys403insHisValAs... | |
| NM_001322010.2:c.1032_1049dup | NP_001308939.1:p.Glu350_Lys351insHisValAs... | |
| NM_001322011.2:c.660_677dup | NP_001308940.1:p.Glu226_Lys227insHisValAs... | |
| NM_001322012.2:c.660_677dup | NP_001308941.1:p.Glu226_Lys227insHisValAs... | |
| NM_001322013.2:c.1020_1037dup | NP_001308942.1:p.Glu346_Lys347insHisValAs... | |
| NM_001322014.2:c.1593_1610dup | NP_001308943.1:p.Glu537_Lys538insHisValAs... | |
| NM_001322015.2:c.1284_1301dup | NP_001308944.1:p.Glu434_Lys435insHisValAs... | |
| NM_001322007.2:c.1275_1292dup | NP_001308936.1:p.Glu431_Lys432insHisValAs... |