Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981777_149981778del , CM000667.2:g.149981777_149981778del | GRCh38 |
| NC_000005.9:g.149361340_149361341del , CM000667.1:g.149361340_149361341del | GRCh37 |
| NC_000005.8:g.149341533_149341534del | NCBI36 |
| NG_007147.2:g.22895_22896del , LRG_684:g.22895_22896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.2184_2185del MANE Select | ENSP00000286298.4:p.Val730SerfsTer7 | |
| ENST00000286298.4:c.2184_2185del | ENSP00000286298.4:p.Val730SerfsTer7 | |
| ENST00000503336.1:c.372+3426_372+3427del | ENSP00000426053.1:n.372+3426_372+3427del | |
| NM_000112.3:c.2184_2185del , LRG_684t1:c.2184_2185del | NP_000103.2:p.Val730SerfsTer7 | |
| XM_017009191.2:c.2184_2185del | XP_016864680.1:p.Val730SerfsTer7 | |
| NM_000112.4:c.2184_2185del MANE Select | NP_000103.2:p.Val730SerfsTer7 |