ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109794408_109794410del , CM000674.2:g.109794408_109794410del | GRCh38 |
| NC_000012.11:g.110232213_110232215del , CM000674.1:g.110232213_110232215del | GRCh37 |
| NC_000012.10:g.108716596_108716598del | NCBI36 |
| NG_017090.1:g.44000_44002del , LRG_372:g.44000_44002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1412_1414del MANE Select | ENSP00000261740.2:p.Phe471del | |
| ENST00000418703.7:c.1412_1414del | ENSP00000406191.2:p.Phe471del | |
| ENST00000674908.1:c.*499_*501del | ENSP00000502012.1:n.*499_*501del | |
| ENST00000675533.1:n.1443_1445del | ||
| ENST00000675670.1:c.1412_1414del | ENSP00000502135.1:p.Phe471del | |
| ENST00000676376.1:n.1443_1445del | ||
| ENST00000261740.6:c.1412_1414del | ENSP00000261740.2:p.Phe471del | |
| ENST00000418703.6:c.1412_1414del | ENSP00000406191.2:p.Phe471del | |
| ENST00000536838.1:c.1310_1312del | ENSP00000444336.1:p.Phe437del | |
| ENST00000537083.5:c.1232_1234del | ENSP00000442738.1:p.Phe411del | |
| ENST00000538125.5:c.1412_1414del | ENSP00000437449.1:p.Phe471del | |
| ENST00000541794.5:c.1271_1273del | ENSP00000442167.1:p.Phe424del | |
| ENST00000544971.5:c.1091_1093del | ENSP00000443611.1:p.Phe364del | |
| NM_001177428.1:c.1271_1273del | NP_001170899.1:p.Phe424del | |
| NM_001177431.1:c.1310_1312del | NP_001170902.1:p.Phe437del | |
| NM_001177433.1:c.1091_1093del | NP_001170904.1:p.Phe364del | |
| NM_021625.4:c.1412_1414del , LRG_372t1:c.1412_1414del | NP_067638.3:p.Phe471del | |
| NM_147204.2:c.1232_1234del | NP_671737.1:p.Phe411del | |
| XM_005253918.1:c.1412_1414del | XP_005253975.1:p.Phe471del | |
| XM_011538630.1:c.1412_1414del | XP_011536932.1:p.Phe471del | |
| XM_011538631.1:c.1271_1273del | XP_011536933.1:p.Phe424del | |
| XM_011538632.1:c.1232_1234del | XP_011536934.1:p.Phe411del | |
| XM_011538633.1:c.1091_1093del | XP_011536935.1:p.Phe364del | |
| XM_011538634.1:c.1412_1414del | XP_011536936.1:p.Phe471del | |
| XM_011538635.1:c.1565_1567del | XP_011536937.1:p.Phe522del | |
| XM_011538636.1:c.1565_1567del | XP_011536938.1:p.Phe522del | |
| XM_011538630.2:c.1565_1567del | XP_011536932.2:p.Phe522del | |
| XM_011538631.2:c.1424_1426del | XP_011536933.2:p.Phe475del | |
| XM_011538632.2:c.1385_1387del | XP_011536934.2:p.Phe462del | |
| XM_011538633.2:c.1244_1246del | XP_011536935.2:p.Phe415del | |
| XM_011538634.2:c.1565_1567del | XP_011536936.2:p.Phe522del | |
| XM_011538635.2:c.1565_1567del | XP_011536937.1:p.Phe522del | |
| XM_017019774.1:c.1412_1414del | XP_016875263.1:p.Phe471del | |
| NM_021625.5:c.1412_1414del MANE Select | NP_067638.3:p.Phe471del |