Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367854_73367870del , CM000677.2:g.73367854_73367870del | GRCh38 |
| NC_000015.9:g.73660195_73660211del , CM000677.1:g.73660195_73660211del | GRCh37 |
| NC_000015.8:g.71447248_71447264del | NCBI36 |
| NG_009063.1:g.6395_6411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.401_417del MANE Select | ENSP00000261917.3:p.Glu134GlyfsTer? | |
| ENST00000261917.3:c.401_417del | ENSP00000261917.3:p.Glu134GlyfsTer? | |
| NM_005477.2:c.401_417del | NP_005468.1:p.Glu134GlyfsTer? | |
| NM_005477.3:c.401_417del MANE Select | NP_005468.1:p.Glu134GlyfsTer? |