Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763705_57763765del , CM000674.2:g.57763705_57763765del | GRCh38 |
| NC_000012.11:g.58157488_58157548del , CM000674.1:g.58157488_58157548del | GRCh37 |
| NC_000012.10:g.56443755_56443815del | NCBI36 |
| NG_007076.1:g.8431_8491del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1342_1402del | ENSP00000518840.1:p.Gln448ThrfsTer? | |
| ENST00000713545.1:c.*266_*326del | ENSP00000518841.1:n.*266_*326del | |
| ENST00000228606.9:c.1261_1321del MANE Select | ENSP00000228606.4:p.Gln421ThrfsTer? | |
| ENST00000228606.8:c.1261_1321del | ENSP00000228606.4:p.Gln421ThrfsTer? | |
| ENST00000547344.5:n.1400_1460del | ||
| NM_000785.3:c.1261_1321del | NP_000776.1:p.Gln421ThrfsTer? | |
| NM_000785.4:c.1261_1321del MANE Select | NP_000776.1:p.Gln421ThrfsTer? |