Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72474699_72474701del , CM000677.2:g.72474699_72474701del | GRCh38 |
| NC_000015.9:g.72767040_72767042del , CM000677.1:g.72767040_72767042del | GRCh37 |
| NC_000015.8:g.70554094_70554096del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005744.5:c.60_62del MANE Select | NP_005735.2:p.Glu20del |
| ENST00000379887.9:c.60_62del MANE Select | ENSP00000369217.4:p.Glu20del |
| NM_005744.3:c.60_62del | NP_005735.2:p.Glu20del |
| NM_005744.4:c.60_62del | NP_005735.2:p.Glu20del |
| ENST00000379887.8:c.60_62del | ENSP00000369217.4:p.Glu20del |
| ENST00000564062.1:c.55_57del | |
| ENST00000570085.5:c.60_62del | ENSP00000456746.1:p.Glu20del |
| XM_011521438.1:c.-50_-48del | XP_011519740.1:n.-50_-48del |
| XM_011521438.3:c.-50_-48del | XP_011519740.1:n.-50_-48del |