Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651790_119651792del , CM000672.2:g.119651790_119651792del | GRCh38 |
| NC_000010.10:g.121411302_121411304del , CM000672.1:g.121411302_121411304del | GRCh37 |
| NC_000010.9:g.121401292_121401294del | NCBI36 |
| NG_016125.1:g.5421_5423del , LRG_742:g.5421_5423del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.115_117del MANE Select | ENSP00000358081.4:p.Phe39del | |
| ENST00000369085.7:c.115_117del | ENSP00000358081.3:p.Phe39del | |
| NM_004281.3:c.115_117del , LRG_742t1:c.115_117del | NP_004272.2:p.Phe39del | |
| XM_005270287.1:c.115_117del | XP_005270344.1:p.Phe39del | |
| XM_005270287.2:c.115_117del | XP_005270344.1:p.Phe39del | |
| NM_004281.4:c.115_117del MANE Select | NP_004272.2:p.Phe39del |