Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980329_149980332del , CM000667.2:g.149980329_149980332del | GRCh38 |
| NC_000005.9:g.149359892_149359895del , CM000667.1:g.149359892_149359895del | GRCh37 |
| NC_000005.8:g.149340085_149340088del | NCBI36 |
| NG_007147.2:g.21447_21450del , LRG_684:g.21447_21450del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.736_739del MANE Select | ENSP00000286298.4:p.Val246ThrfsTer7 | |
| ENST00000286298.4:c.736_739del | ENSP00000286298.4:p.Val246ThrfsTer7 | |
| ENST00000503336.1:c.372+1978_372+1981del | ENSP00000426053.1:n.372+1978_372+1981del | |
| NM_000112.3:c.736_739del , LRG_684t1:c.736_739del | NP_000103.2:p.Val246ThrfsTer7 | |
| XM_017009191.2:c.736_739del | XP_016864680.1:p.Val246ThrfsTer7 | |
| NM_000112.4:c.736_739del MANE Select | NP_000103.2:p.Val246ThrfsTer7 |