Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038230_52038234del , CM000666.2:g.52038230_52038234del | GRCh38 |
| NC_000004.11:g.52904396_52904400del , CM000666.1:g.52904396_52904400del | GRCh37 |
| NC_000004.10:g.52599153_52599157del | NCBI36 |
| NG_008891.1:g.5089_5093del , LRG_204:g.5089_5093del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.29_33del MANE Select | NP_000223.1:p.Glu10AlafsTer13 |
| ENST00000381431.10:c.29_33del MANE Select | ENSP00000370839.6:p.Glu10AlafsTer13 |
| NM_000232.4:c.29_33del , LRG_204t1:c.29_33del | NP_000223.1:p.Glu10AlafsTer13 |
| ENST00000381431.9:c.29_33del | ENSP00000370839.5:p.Glu10AlafsTer13 |
| ENST00000506357.5:c.15_19del | |
| XM_011534403.1:c.29_33del | XP_011532705.1:p.Glu10AspfsTer17 |