ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150396460_150396461del , CM000667.2:g.150396460_150396461del | GRCh38 |
| NC_000005.9:g.149776023_149776024del , CM000667.1:g.149776023_149776024del | GRCh37 |
| NC_000005.8:g.149756216_149756217del | NCBI36 |
| NG_011341.1:g.43822_43823del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.3846_3847del | ENSP00000390717.3:p.Glu1283AlafsTer? | |
| ENST00000643257.2:c.3963_3964del MANE Select | ENSP00000493815.1:p.Glu1322AlafsTer? | |
| ENST00000650162.1:c.3618_3619del | ENSP00000497075.1:p.Glu1207AlafsTer? | |
| ENST00000674413.1:c.3362_3363del | ||
| ENST00000323668.11:c.3729_3730del | ENSP00000325223.6:p.Glu1244AlafsTer? | |
| ENST00000377797.7:c.3960_3961del | ENSP00000367028.4:p.Glu1321AlafsTer? | |
| ENST00000427724.6:c.3846_3847del | ENSP00000390717.2:p.Glu1283AlafsTer? | |
| ENST00000439160.6:c.3849_3850del | ENSP00000406888.2:p.Glu1284AlafsTer? | |
| ENST00000445265.6:c.3732_3733del | ENSP00000409944.2:p.Glu1245AlafsTer? | |
| ENST00000504761.6:c.3960_3961del | ENSP00000421655.2:p.Glu1321AlafsTer? | |
| ENST00000513346.5:c.3960_3961del | ENSP00000427484.1:p.Glu1321AlafsTer? | |
| ENST00000515516.1:c.343-283_343-282del | ENSP00000426471.1:n.343-283_343-282del | |
| NM_000356.3:c.3729_3730del | NP_000347.2:p.Glu1244AlafsTer? | |
| NM_001135243.1:c.3960_3961del | NP_001128715.1:p.Glu1321AlafsTer? | |
| NM_001135244.1:c.3849_3850del | NP_001128716.1:p.Glu1284AlafsTer? | |
| NM_001135245.1:c.3732_3733del | NP_001128717.1:p.Glu1245AlafsTer? | |
| NM_001195141.1:c.3846_3847del | NP_001182070.1:p.Glu1283AlafsTer? | |
| XM_005268502.2:c.4074_4075del | XP_005268559.1:p.Glu1359AlafsTer? | |
| XM_005268503.2:c.4071_4072del | XP_005268560.1:p.Glu1358AlafsTer? | |
| XM_005268504.2:c.4071_4072del | XP_005268561.1:p.Glu1358AlafsTer? | |
| XM_005268505.2:c.3963_3964del | XP_005268562.1:p.Glu1322AlafsTer? | |
| XM_005268506.2:c.3960_3961del | XP_005268563.1:p.Glu1321AlafsTer? | |
| XM_005268507.2:c.3843_3844del | XP_005268564.1:p.Glu1282AlafsTer? | |
| XM_011537678.1:c.3894_3895del | XP_011535980.1:p.Glu1299AlafsTer? | |
| XM_005268502.4:c.4074_4075del | XP_005268559.1:p.Glu1359AlafsTer? | |
| XM_005268503.4:c.4071_4072del | XP_005268560.1:p.Glu1358AlafsTer? | |
| XM_005268504.4:c.4071_4072del | XP_005268561.1:p.Glu1358AlafsTer? | |
| XM_005268505.4:c.3963_3964del | XP_005268562.1:p.Glu1322AlafsTer? | |
| XM_005268506.4:c.3960_3961del | XP_005268563.1:p.Glu1321AlafsTer? | |
| XM_005268507.4:c.3843_3844del | XP_005268564.1:p.Glu1282AlafsTer? | |
| XM_011537678.3:c.3894_3895del | XP_011535980.1:p.Glu1299AlafsTer? | |
| XM_017009792.2:c.3957_3958del | XP_016865281.1:p.Glu1320AlafsTer? | |
| XM_017009793.2:c.3783_3784del | XP_016865282.1:p.Glu1262AlafsTer? | |
| XM_017009794.2:c.3669_3670del | XP_016865283.1:p.Glu1224AlafsTer? | |
| XR_427778.3:n.4080_4081del | ||
| XR_427780.3:n.3969_3970del | ||
| NM_000356.4:c.3729_3730del | NP_000347.2:p.Glu1244AlafsTer? | |
| NM_001135244.2:c.3849_3850del | NP_001128716.1:p.Glu1284AlafsTer? | |
| NM_001135245.2:c.3732_3733del | NP_001128717.1:p.Glu1245AlafsTer? | |
| NM_001195141.2:c.3846_3847del | NP_001182070.1:p.Glu1283AlafsTer? | |
| NM_001371623.1:c.3963_3964del MANE Select | NP_001358552.1:p.Glu1322AlafsTer? | |
| NM_001135243.2:c.3960_3961del | NP_001128715.1:p.Glu1321AlafsTer? |