ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961051_87961054del , CM000672.2:g.87961051_87961054del | GRCh38 |
| NC_000010.10:g.89720808_89720811del , CM000672.1:g.89720808_89720811del | GRCh37 |
| NC_000010.9:g.89710788_89710791del | NCBI36 |
| NG_007466.2:g.102613_102616del , LRG_311:g.102613_102616del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1052_1055del | ENSP00000514759.2:p.Leu351Ter | |
| ENST00000710265.1:c.959_962del | ENSP00000518161.1:p.Leu320Ter | |
| ENST00000472832.3:c.959_962del | ENSP00000483066.2:p.Leu320Ter | |
| ENST00000688158.2:n.1694_1697del | ||
| ENST00000688922.2:c.*789_*792del | ENSP00000508742.2:n.*789_*792del | |
| ENST00000700021.1:c.914_917del | ENSP00000514757.1:p.Leu305Ter | |
| ENST00000700022.1:c.*298_*301del | ENSP00000514758.1:n.*298_*301del | |
| ENST00000700023.1:n.2117_2120del | ||
| ENST00000700024.1:n.2351_2354del | ||
| ENST00000700025.1:n.1728_1731del | ||
| ENST00000700026.1:n.596_599del | ||
| ENST00000706954.1:c.959_962del | ENSP00000516674.1:p.Leu320Ter | |
| ENST00000706955.1:c.*994_*997del | ENSP00000516675.1:n.*994_*997del | |
| ENST00000686459.1:c.*545_*548del | ENSP00000508909.1:n.*545_*548del | |
| ENST00000688158.1:c.*1070_*1073del | ENSP00000509254.1:n.*1070_*1073del | |
| ENST00000688308.1:c.959_962del | ENSP00000508752.1:p.Leu320Ter | |
| ENST00000688922.1:c.880_883del | ||
| ENST00000693560.1:c.1478_1481del | ENSP00000509861.1:p.Leu493Ter | |
| ENST00000371953.8:c.959_962del MANE Select | ENSP00000361021.3:p.Leu320Ter | |
| ENST00000371953.7:c.959_962del | ENSP00000361021.3:p.Leu320Ter | |
| ENST00000472832.2:c.386_389del | ENSP00000483066.1:p.Leu129Ter | |
| NM_000314.5:c.959_962del | NP_000305.3:p.Leu320Ter | |
| NM_000314.6:c.959_962del | NP_000305.3:p.Leu320Ter | |
| NM_001304717.2:c.1478_1481del | NP_001291646.2:p.Leu493Ter | |
| NM_001304718.1:c.368_371del | NP_001291647.1:p.Leu123Ter | |
| XM_006717926.2:c.914_917del | XP_006717989.1:p.Leu305Ter | |
| XM_011539981.1:c.959_962del | XP_011538283.1:p.Leu320Ter | |
| XM_011539982.1:c.863_866del | XP_011538284.1:p.Leu288Ter | |
| XR_945791.1:n.1529_1532del | ||
| NM_000314.7:c.959_962del | NP_000305.3:p.Leu320Ter | |
| NM_001304717.5:c.1478_1481del | NP_001291646.4:p.Leu493Ter | |
| NM_001304718.2:c.368_371del | NP_001291647.1:p.Leu123Ter | |
| NM_000314.8:c.959_962del MANE Select | NP_000305.3:p.Leu320Ter |