Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23428600_23428601del , CM000676.2:g.23428600_23428601del | GRCh38 |
| NC_000014.8:g.23897809_23897810del , CM000676.1:g.23897809_23897810del | GRCh37 |
| NC_000014.7:g.22967649_22967650del | NCBI36 |
| NG_007884.1:g.12061_12062del , LRG_384:g.12061_12062del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.1477_1478del MANE Select | NP_000248.2:p.Met493ValfsTer19 |
| ENST00000355349.4:c.1477_1478del MANE Select | ENSP00000347507.3:p.Met493ValfsTer19 |
| NM_000257.3:c.1477_1478del | NP_000248.2:p.Met493ValfsTer19 |
| ENST00000355349.3:c.1477_1478del | ENSP00000347507.3:p.Met493ValfsTer19 |
| XM_017021340.1:c.1477_1478del | XP_016876829.1:p.Met493ValfsTer19 |
| XR_245686.3:n.1583_1584del |