ClinVar Variation:
dbSNP:
gnomAD v2:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150398380_150398384del , CM000667.2:g.150398380_150398384del | GRCh38 |
| NC_000005.9:g.149777943_149777947del , CM000667.1:g.149777943_149777947del | GRCh37 |
| NC_000005.8:g.149758136_149758140del | NCBI36 |
| NG_011341.1:g.45742_45746del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.4255_4259del | ENSP00000390717.3:p.Lys1419GlufsTer12 | |
| ENST00000643257.2:c.4372_4376del MANE Select | ENSP00000493815.1:p.Lys1458GlufsTer12 | |
| ENST00000650162.1:c.4027_4031del | ENSP00000497075.1:p.Lys1343GlufsTer12 | |
| ENST00000323668.11:c.4138_4142del | ENSP00000325223.6:p.Lys1380GlufsTer12 | |
| ENST00000377797.7:c.4369_4373del | ENSP00000367028.4:p.Lys1457GlufsTer12 | |
| ENST00000439160.6:c.4258_4262del | ENSP00000406888.2:p.Lys1420GlufsTer12 | |
| ENST00000445265.6:c.4141_4145del | ENSP00000409944.2:p.Lys1381GlufsTer12 | |
| ENST00000504761.6:c.4369_4373del | ENSP00000421655.2:p.Lys1457GlufsTer12 | |
| ENST00000513346.5:c.4369_4373del | ENSP00000427484.1:p.Lys1457GlufsTer12 | |
| ENST00000515516.1:c.469_473del | ENSP00000426471.1:p.Lys157GlufsTer12 | |
| NM_000356.3:c.4138_4142del | NP_000347.2:p.Lys1380GlufsTer12 | |
| NM_001135243.1:c.4369_4373del | NP_001128715.1:p.Lys1457GlufsTer12 | |
| NM_001135244.1:c.4258_4262del | NP_001128716.1:p.Lys1420GlufsTer12 | |
| NM_001135245.1:c.4141_4145del | NP_001128717.1:p.Lys1381GlufsTer12 | |
| NM_001195141.1:c.4255_4259del | NP_001182070.1:p.Lys1419GlufsTer12 | |
| XM_005268502.2:c.4483_4487del | XP_005268559.1:p.Lys1495GlufsTer12 | |
| XM_005268503.2:c.4480_4484del | XP_005268560.1:p.Lys1494GlufsTer12 | |
| XM_005268504.2:c.4480_4484del | XP_005268561.1:p.Lys1494GlufsTer12 | |
| XM_005268505.2:c.4372_4376del | XP_005268562.1:p.Lys1458GlufsTer12 | |
| XM_005268506.2:c.4369_4373del | XP_005268563.1:p.Lys1457GlufsTer12 | |
| XM_005268507.2:c.4252_4256del | XP_005268564.1:p.Lys1418GlufsTer12 | |
| XM_011537678.1:c.4303_4307del | XP_011535980.1:p.Lys1435GlufsTer12 | |
| XM_005268502.4:c.4483_4487del | XP_005268559.1:p.Lys1495GlufsTer12 | |
| XM_005268503.4:c.4480_4484del | XP_005268560.1:p.Lys1494GlufsTer12 | |
| XM_005268504.4:c.4480_4484del | XP_005268561.1:p.Lys1494GlufsTer12 | |
| XM_005268505.4:c.4372_4376del | XP_005268562.1:p.Lys1458GlufsTer12 | |
| XM_005268506.4:c.4369_4373del | XP_005268563.1:p.Lys1457GlufsTer12 | |
| XM_005268507.4:c.4252_4256del | XP_005268564.1:p.Lys1418GlufsTer12 | |
| XM_011537678.3:c.4303_4307del | XP_011535980.1:p.Lys1435GlufsTer12 | |
| XM_017009792.2:c.4366_4370del | XP_016865281.1:p.Lys1456GlufsTer12 | |
| XM_017009793.2:c.4192_4196del | XP_016865282.1:p.Lys1398GlufsTer12 | |
| XM_017009794.2:c.4078_4082del | XP_016865283.1:p.Lys1360GlufsTer12 | |
| NM_000356.4:c.4138_4142del | NP_000347.2:p.Lys1380GlufsTer12 | |
| NM_001135244.2:c.4258_4262del | NP_001128716.1:p.Lys1420GlufsTer12 | |
| NM_001135245.2:c.4141_4145del | NP_001128717.1:p.Lys1381GlufsTer12 | |
| NM_001195141.2:c.4255_4259del | NP_001182070.1:p.Lys1419GlufsTer12 | |
| NM_001371623.1:c.4372_4376del MANE Select | NP_001358552.1:p.Lys1458GlufsTer12 | |
| NM_001135243.2:c.4369_4373del | NP_001128715.1:p.Lys1457GlufsTer12 |