Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949281del , CM000672.2:g.94949281del | GRCh38 |
| NC_000010.10:g.96709038del , CM000672.1:g.96709038del | GRCh37 |
| NC_000010.9:g.96699028del | NCBI36 |
| NG_008385.1:g.15624del | |
| NG_008385.2:g.16124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.816del MANE Select | ENSP00000260682.6:p.Lys273ArgfsTer? | |
| ENST00000643112.1:c.816del | ENSP00000496202.1:p.Lys273SerfsTer2 | |
| ENST00000260682.6:c.816del | ENSP00000260682.6:p.Lys273ArgfsTer? | |
| ENST00000473496.1:n.587del | ||
| NM_000771.3:c.816del | NP_000762.2:p.Lys273ArgfsTer? | |
| NM_000771.4:c.816del MANE Select | NP_000762.2:p.Lys273ArgfsTer? |