ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218421del , CM000681.2:g.1218421del | GRCh38 |
| NC_000019.9:g.1218420del , CM000681.1:g.1218420del | GRCh37 |
| NC_000019.8:g.1169420del | NCBI36 |
| NG_007460.2:g.34015del , LRG_319:g.34015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.295del | ENSP00000490268.2:p.Ile99PhefsTer4 | |
| ENST00000585748.3:c.-78del | ENSP00000477641.2:n.-78del | |
| ENST00000585851.2:c.291-1952del | ENSP00000467912.2:n.291-1952del | |
| ENST00000326873.12:c.295del MANE Select | ENSP00000324856.6:p.Ile99PhefsTer4 | |
| ENST00000652231.1:c.295del | ENSP00000498804.1:p.Ile99PhefsTer4 | |
| ENST00000326873.11:c.295del | ENSP00000324856.6:p.Ile99PhefsTer4 | |
| ENST00000585748.2:c.-78del | ENSP00000477641.1:n.-78del | |
| ENST00000585851.1:c.291-1952del | ENSP00000467912.1:n.291-1952del | |
| ENST00000586243.5:c.295del | ENSP00000467240.2:p.Ile99PhefsTer4 | |
| ENST00000586358.5:n.118del | ||
| ENST00000589152.5:n.385del | ||
| ENST00000593219.5:c.*120del | ENSP00000466610.1:n.*120del | |
| NM_000455.4:c.295del , LRG_319t1:c.295del | NP_000446.1:p.Ile99PhefsTer4 | |
| XM_005259617.1:c.295del | XP_005259674.1:p.Ile99PhefsTer4 | |
| XM_005259618.3:c.295del | XP_005259675.1:p.Ile99PhefsTer4 | |
| XM_011528209.1:c.73del | XP_011526511.1:p.Ile25PhefsTer4 | |
| XR_936204.1:n.920del | ||
| XM_005259617.3:c.295del | XP_005259674.1:p.Ile99PhefsTer4 | |
| XM_011528209.2:c.73del | XP_011526511.1:p.Ile25PhefsTer4 | |
| XR_001753738.2:n.920del | ||
| XR_001753739.1:n.920del | ||
| XR_001753740.2:n.920del | ||
| NM_000455.5:c.295del MANE Select | NP_000446.1:p.Ile99PhefsTer4 |