ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839540del , CM000667.2:g.112839540del | GRCh38 |
| NC_000005.9:g.112175237del , CM000667.1:g.112175237del | GRCh37 |
| NC_000005.8:g.112203136del | NCBI36 |
| NG_008481.4:g.152020del , LRG_130:g.152020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3611del | ENSP00000484935.2:n.3611del | |
| ENST00000504915.3:c.4000del | ENSP00000473355.2:p.Ala1334LeufsTer5 | |
| ENST00000505350.2:c.*3952del | ENSP00000481752.1:n.*3952del | |
| ENST00000507379.6:c.3892del | ENSP00000423224.2:p.Ala1298LeufsTer5 | |
| ENST00000509732.6:c.3946del | ENSP00000426541.2:p.Ala1316LeufsTer5 | |
| ENST00000512211.7:c.3946del | ENSP00000423828.3:p.Ala1316LeufsTer5 | |
| ENST00000257430.9:c.3946del MANE Select | ENSP00000257430.4:p.Ala1316LeufsTer5 | |
| ENST00000257430.8:c.3946del | ENSP00000257430.4:p.Ala1316LeufsTer5 | |
| ENST00000502371.2:c.2299del | ||
| ENST00000508376.6:c.3946del | ENSP00000427089.2:p.Ala1316LeufsTer5 | |
| ENST00000508624.5:c.*3268del | ENSP00000424265.1:n.*3268del | |
| ENST00000520401.1:c.230+10568del | ||
| NM_000038.5:c.3946del | NP_000029.2:p.Ala1316LeufsTer5 | |
| NM_001127510.2:c.3946del | NP_001120982.1:p.Ala1316LeufsTer5 | |
| NM_001127511.2:c.3892del | NP_001120983.2:p.Ala1298LeufsTer5 | |
| NM_001354895.1:c.3946del | NP_001341824.1:p.Ala1316LeufsTer5 | |
| NM_001354896.1:c.4000del | NP_001341825.1:p.Ala1334LeufsTer5 | |
| NM_001354897.1:c.3976del | NP_001341826.1:p.Ala1326LeufsTer5 | |
| NM_001354898.1:c.3871del | NP_001341827.1:p.Ala1291LeufsTer5 | |
| NM_001354899.1:c.3862del | NP_001341828.1:p.Ala1288LeufsTer5 | |
| NM_001354900.1:c.3823del | NP_001341829.1:p.Ala1275LeufsTer5 | |
| NM_001354901.1:c.3769del | NP_001341830.1:p.Ala1257LeufsTer5 | |
| NM_001354902.1:c.3673del | NP_001341831.1:p.Ala1225LeufsTer5 | |
| NM_001354903.1:c.3643del | NP_001341832.1:p.Ala1215LeufsTer5 | |
| NM_001354904.1:c.3568del | NP_001341833.1:p.Ala1190LeufsTer5 | |
| NM_001354905.1:c.3466del | NP_001341834.1:p.Ala1156LeufsTer5 | |
| NM_001354906.1:c.3097del | NP_001341835.1:p.Ala1033LeufsTer5 | |
| NM_000038.6:c.3946del MANE Select | NP_000029.2:p.Ala1316LeufsTer5 | |
| NM_001127510.3:c.3946del | NP_001120982.1:p.Ala1316LeufsTer5 | |
| NM_001127511.3:c.3892del | NP_001120983.2:p.Ala1298LeufsTer5 | |
| NM_001354895.2:c.3946del | NP_001341824.1:p.Ala1316LeufsTer5 | |
| NM_001354896.2:c.4000del | NP_001341825.1:p.Ala1334LeufsTer5 | |
| NM_001354897.2:c.3976del | NP_001341826.1:p.Ala1326LeufsTer5 | |
| NM_001354898.2:c.3871del | NP_001341827.1:p.Ala1291LeufsTer5 | |
| NM_001354899.2:c.3862del | NP_001341828.1:p.Ala1288LeufsTer5 | |
| NM_001354900.2:c.3823del | NP_001341829.1:p.Ala1275LeufsTer5 | |
| NM_001354901.2:c.3769del | NP_001341830.1:p.Ala1257LeufsTer5 | |
| NM_001354902.2:c.3673del | NP_001341831.1:p.Ala1225LeufsTer5 | |
| NM_001354903.2:c.3643del | NP_001341832.1:p.Ala1215LeufsTer5 | |
| NM_001354904.2:c.3568del | NP_001341833.1:p.Ala1190LeufsTer5 | |
| NM_001354905.2:c.3466del | NP_001341834.1:p.Ala1156LeufsTer5 | |
| NM_001354906.2:c.3097del | NP_001341835.1:p.Ala1033LeufsTer5 |