Linked Data
ClinVar Variation Id:
371505
dbSNP Id:
rs1057517323
gnomAD v2:
5-118861665-C-CGTGT
gnomAD v3:
5-119525970-C-CGTGT
gnomAD v4:
5-119525970-C-CGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525973_119525976dup , CM000667.2:g.119525973_119525976dup | GRCh38 |
| NC_000005.9:g.118861668_118861671dup , CM000667.1:g.118861668_118861671dup | GRCh37 |
| NC_000005.8:g.118889567_118889570dup | NCBI36 |
| NG_008182.1:g.78521_78524dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.1561_1564dup | ENSP00000426272.2:p.Leu522CysfsTer8 | |
| ENST00000518349.6:c.874_877dup | ENSP00000507185.1:p.Leu293CysfsTer8 | |
| ENST00000520244.6:n.3368_3371dup | ||
| ENST00000682445.1:c.*1511_*1514dup | ENSP00000508061.1:n.*1511_*1514dup | |
| ENST00000682531.1:n.3522_3525dup | ||
| ENST00000682626.1:c.*1136_*1139dup | ENSP00000507857.1:n.*1136_*1139dup | |
| ENST00000682996.1:c.1558_1561dup | ENSP00000507792.1:p.Leu521CysfsTer8 | |
| ENST00000683265.1:n.3416_3419dup | ||
| ENST00000683335.1:n.3032_3035dup | ||
| ENST00000683371.1:c.*1760_*1763dup | ENSP00000508376.1:n.*1760_*1763dup | |
| ENST00000683372.1:n.3640_3643dup | ||
| ENST00000683390.1:n.3320_3323dup | ||
| ENST00000683476.1:n.472_475dup | ||
| ENST00000683549.1:n.3244_3247dup | ||
| ENST00000683936.1:c.*3208_*3211dup | ENSP00000507721.1:n.*3208_*3211dup | |
| ENST00000683974.1:n.3359_3362dup | ||
| ENST00000683996.1:c.*840_*843dup | ENSP00000507060.1:n.*840_*843dup | |
| ENST00000684131.1:n.3162_3165dup | ||
| ENST00000684160.1:c.*1320_*1323dup | ENSP00000507821.1:n.*1320_*1323dup | |
| ENST00000684214.1:c.1630_1633dup | ENSP00000508071.1:p.Leu545CysfsTer8 | |
| ENST00000414835.7:c.1705_1708dup | ENSP00000411960.3:p.Leu570CysfsTer8 | |
| ENST00000510025.7:c.1630_1633dup MANE Select | ENSP00000424940.3:p.Leu545CysfsTer8 | |
| ENST00000643250.1:c.*1502_*1505dup | ENSP00000494737.1:n.*1502_*1505dup | |
| ENST00000644146.1:c.*2901_*2904dup | ENSP00000494808.1:n.*2901_*2904dup | |
| ENST00000645099.1:c.1189_1192dup | ENSP00000496091.1:p.Leu398CysfsTer8 | |
| ENST00000645702.1:c.*1033_*1036dup | ENSP00000496432.1:n.*1033_*1036dup | |
| ENST00000645832.1:c.*1515_*1518dup | ENSP00000494316.1:n.*1515_*1518dup | |
| ENST00000646058.1:c.1630_1633dup | ENSP00000493579.1:p.Leu545CysfsTer8 | |
| ENST00000646355.1:c.*1636_*1639dup | ENSP00000493801.1:n.*1636_*1639dup | |
| ENST00000646554.1:c.*1608_*1611dup | ENSP00000494542.1:n.*1608_*1611dup | |
| ENST00000647335.1:c.*1597_*1600dup | ENSP00000495180.1:n.*1597_*1600dup | |
| ENST00000647342.1:c.*1561_*1564dup | ENSP00000494992.1:n.*1561_*1564dup | |
| ENST00000256216.10:c.1630_1633dup | ENSP00000256216.6:p.Leu545CysfsTer8 | |
| ENST00000414835.6:c.1210_1213dup | ENSP00000411960.2:p.Leu405CysfsTer8 | |
| ENST00000442060.7:c.*192_*195dup | ENSP00000390208.3:n.*192_*195dup | |
| ENST00000504811.5:c.1705_1708dup | ENSP00000420914.1:p.Leu570CysfsTer8 | |
| ENST00000507353.1:n.238_241dup | ||
| ENST00000509514.5:c.844_847dup | ENSP00000426272.1:p.Leu283CysfsTer8 | |
| ENST00000509951.5:n.85_88dup | ||
| ENST00000510025.5:c.1558_1561dup | ENSP00000424940.1:p.Leu521CysfsTer8 | |
| ENST00000513628.5:c.1219_1222dup | ENSP00000425993.1:p.Leu408CysfsTer8 | |
| ENST00000515235.6:n.3383_3386dup | ||
| ENST00000515320.5:c.1576_1579dup | ENSP00000424613.1:p.Leu527CysfsTer8 | |
| ENST00000518349.5:n.764_767dup | ||
| ENST00000520244.5:n.413_416dup | ||
| ENST00000522415.5:n.297_300dup | ||
| NM_000414.3:c.1630_1633dup | NP_000405.1:p.Leu545CysfsTer8 | |
| NM_001199291.2:c.1705_1708dup | NP_001186220.1:p.Leu570CysfsTer8 | |
| NM_001199292.1:c.1576_1579dup | NP_001186221.1:p.Leu527CysfsTer8 | |
| NM_001292027.1:c.1558_1561dup | NP_001278956.1:p.Leu521CysfsTer8 | |
| NM_001292028.1:c.1210_1213dup | NP_001278957.1:p.Leu405CysfsTer8 | |
| NM_000414.4:c.1630_1633dup MANE Select | NP_000405.1:p.Leu545CysfsTer8 | |
| NM_001199291.3:c.1705_1708dup | NP_001186220.1:p.Leu570CysfsTer8 | |
| NM_001199292.2:c.1576_1579dup | NP_001186221.1:p.Leu527CysfsTer8 | |
| NM_001292027.2:c.1558_1561dup | NP_001278956.1:p.Leu521CysfsTer8 | |
| NM_001292028.2:c.1210_1213dup | NP_001278957.1:p.Leu405CysfsTer8 | |
| NM_001374497.1:c.1621_1624dup | NP_001361426.1:p.Leu542CysfsTer8 | |
| NM_001374498.1:c.1558_1561dup | NP_001361427.1:p.Leu521CysfsTer8 | |
| NM_001374499.1:c.1303_1306dup | NP_001361428.1:p.Leu436CysfsTer8 | |
| NM_001374500.1:c.1189_1192dup | NP_001361429.1:p.Leu398CysfsTer8 | |
| NM_001374501.1:c.1219_1222dup | NP_001361430.1:p.Leu408CysfsTer8 | |
| NM_001374502.1:c.1219_1222dup | NP_001361431.1:p.Leu408CysfsTer8 | |
| NM_001374503.1:c.1219_1222dup | NP_001361432.1:p.Leu408CysfsTer8 | |
| NR_164653.1:n.1727_1730dup | ||
| NR_164654.1:n.1995_1998dup |