Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154965979_154965980del , CM000685.2:g.154965979_154965980del | GRCh38 |
| NC_000023.10:g.154194254_154194255del , CM000685.1:g.154194254_154194255del | GRCh37 |
| NC_000023.9:g.153847448_153847449del | NCBI36 |
| NG_011403.1:g.61748_61749del | |
| NG_011403.2:g.61748_61749del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1437_1438del MANE Select | ENSP00000353393.4:p.Leu480ValfsTer5 | |
| ENST00000647125.1:c.*1313_*1314del | ENSP00000496062.1:n.*1313_*1314del | |
| ENST00000360256.8:c.1437_1438del | ENSP00000353393.4:p.Leu480ValfsTer5 | |
| ENST00000483822.2:n.257_258del | ||
| NM_000132.3:c.1437_1438del | NP_000123.1:p.Leu480ValfsTer5 | |
| XM_011531126.1:c.1332_1333del | XP_011529428.1:p.Leu445ValfsTer5 | |
| NM_000132.4:c.1437_1438del MANE Select | NP_000123.1:p.Leu480ValfsTer5 |