Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102066557del , CM000672.2:g.102066557del | GRCh38 |
| NC_000010.10:g.103826314del , CM000672.1:g.103826314del | GRCh37 |
| NC_000010.9:g.103816304del | NCBI36 |
| NG_012029.1:g.6168del , LRG_564:g.6168del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024747.6:c.1083del MANE Select | NP_079023.2:p.Gly362AlafsTer? |
| ENST00000299238.7:c.1083del MANE Select | ENSP00000299238.5:p.Gly362AlafsTer? |
| NM_024747.5:c.1083del , LRG_564t1:c.1083del | NP_079023.2:p.Gly362AlafsTer? |
| ENST00000299238.6:c.1083del | ENSP00000299238.5:p.Gly362AlafsTer? |