Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966002_154966006del , CM000685.2:g.154966002_154966006del | GRCh38 |
| NC_000023.10:g.154194277_154194281del , CM000685.1:g.154194277_154194281del | GRCh37 |
| NC_000023.9:g.153847471_153847475del | NCBI36 |
| NG_011403.1:g.61718_61722del | |
| NG_011403.2:g.61718_61722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1407_1411del MANE Select | ENSP00000353393.4:p.Pro470ThrfsTer14 | |
| ENST00000647125.1:c.*1283_*1287del | ENSP00000496062.1:n.*1283_*1287del | |
| ENST00000360256.8:c.1407_1411del | ENSP00000353393.4:p.Pro470ThrfsTer14 | |
| ENST00000483822.2:n.227_231del | ||
| NM_000132.3:c.1407_1411del | NP_000123.1:p.Pro470ThrfsTer14 | |
| XM_011531126.1:c.1302_1306del | XP_011529428.1:p.Pro435ThrfsTer14 | |
| NM_000132.4:c.1407_1411del MANE Select | NP_000123.1:p.Pro470ThrfsTer14 |