Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942213_94942222del , CM000672.2:g.94942213_94942222del | GRCh38 |
| NC_000010.10:g.96701970_96701979del , CM000672.1:g.96701970_96701979del | GRCh37 |
| NC_000010.9:g.96691960_96691969del | NCBI36 |
| NG_008385.1:g.8556_8565del | |
| NG_008385.2:g.9056_9065del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.353_362del MANE Select | ENSP00000260682.6:p.Lys118ArgfsTer9 | |
| ENST00000643112.1:c.353_362del | ENSP00000496202.1:p.Lys118ArgfsTer9 | |
| ENST00000645207.1:n.506_515del | ||
| ENST00000260682.6:c.353_362del | ENSP00000260682.6:p.Lys118ArgfsTer9 | |
| ENST00000461906.1:n.378_387del | ||
| ENST00000473496.1:n.124_133del | ||
| NM_000771.3:c.353_362del | NP_000762.2:p.Lys118ArgfsTer9 | |
| NM_000771.4:c.353_362del MANE Select | NP_000762.2:p.Lys118ArgfsTer9 |