Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116981_19116997del , CM000669.2:g.19116981_19116997del | GRCh38 |
| NC_000007.13:g.19156604_19156620del , CM000669.1:g.19156604_19156620del | GRCh37 |
| NC_000007.12:g.19123129_19123145del | NCBI36 |
| NG_008114.1:g.5677_5693del | |
| NG_008114.2:g.5677_5693del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.326_342del MANE Select | ENSP00000242261.5:p.Gln109ArgfsTer? | |
| ENST00000242261.5:c.326_342del | ENSP00000242261.5:p.Gln109ArgfsTer? | |
| ENST00000354571.5:c.123_139del | ||
| NM_000474.3:c.326_342del | NP_000465.1:p.Gln109ArgfsTer? | |
| XM_011515496.1:c.326_342del | XP_011513798.1:p.Gln109ArgfsTer? | |
| NR_149001.1:n.677_693del | ||
| NM_000474.4:c.326_342del MANE Select | NP_000465.1:p.Gln109ArgfsTer? | |
| NR_149001.2:n.641_657del |