Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116917del , CM000669.2:g.19116917del | GRCh38 |
| NC_000007.13:g.19156540del , CM000669.1:g.19156540del | GRCh37 |
| NC_000007.12:g.19123065del | NCBI36 |
| NG_008114.1:g.5759del | |
| NG_008114.2:g.5759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.408del MANE Select | ENSP00000242261.5:p.Thr137ArgfsTer7 | |
| ENST00000242261.5:c.408del | ENSP00000242261.5:p.Thr137ArgfsTer7 | |
| ENST00000354571.5:c.205del | ||
| ENST00000443687.5:c.11del | ||
| NM_000474.3:c.408del | NP_000465.1:p.Thr137ArgfsTer7 | |
| XM_011515496.1:c.408del | XP_011513798.1:p.Thr137ArgfsTer7 | |
| NR_149001.1:n.759del | ||
| NM_000474.4:c.408del MANE Select | NP_000465.1:p.Thr137ArgfsTer7 | |
| NR_149001.2:n.723del |