Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117251_19117270del , CM000669.2:g.19117251_19117270del | GRCh38 |
| NC_000007.13:g.19156874_19156893del , CM000669.1:g.19156874_19156893del | GRCh37 |
| NC_000007.12:g.19123399_19123418del | NCBI36 |
| NG_008114.1:g.5405_5424del | |
| NG_008114.2:g.5405_5424del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.54_73del MANE Select | ENSP00000242261.5:p.Ser18ArgfsTer? | |
| ENST00000242261.5:c.54_73del | ENSP00000242261.5:p.Ser18ArgfsTer? | |
| NM_000474.3:c.54_73del | NP_000465.1:p.Ser18ArgfsTer? | |
| XM_011515496.1:c.54_73del | XP_011513798.1:p.Ser18ArgfsTer? | |
| NR_149001.1:n.405_424del | ||
| NM_000474.4:c.54_73del MANE Select | NP_000465.1:p.Ser18ArgfsTer? | |
| NR_149001.2:n.369_388del |