Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632875del , CM000670.2:g.86632875del | GRCh38 |
| NC_000008.10:g.87645103del , CM000670.1:g.87645103del | GRCh37 |
| NC_000008.9:g.87714219del | NCBI36 |
| NG_016980.1:g.115802del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1198del MANE Select | ENSP00000316605.5:p.Trp400GlyfsTer6 | |
| ENST00000681546.1:n.1018del | ||
| ENST00000681746.1:c.1198del | ENSP00000505959.1:p.Trp400GlyfsTer6 | |
| ENST00000320005.5:c.1198del | ENSP00000316605.5:p.Trp400GlyfsTer6 | |
| NM_019098.4:c.1198del | NP_061971.3:p.Trp400GlyfsTer6 | |
| XM_011517138.1:c.784del | XP_011515440.1:p.Trp262GlyfsTer6 | |
| XM_011517138.2:c.784del | XP_011515440.1:p.Trp262GlyfsTer6 | |
| NM_019098.5:c.1198del MANE Select | NP_061971.3:p.Trp400GlyfsTer6 |