Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320362dup , CM000667.2:g.159320362dup | GRCh38 |
| NC_000005.9:g.158747370dup , CM000667.1:g.158747370dup | GRCh37 |
| NC_000005.8:g.158679948dup | NCBI36 |
| NG_009618.1:g.15113dup , LRG_71:g.15113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.12dup | ENSP00000512849.1:p.Val5ArgfsTer7 | |
| ENST00000696751.1:c.*137dup | ENSP00000512850.1:n.*137dup | |
| ENST00000231228.3:c.642dup MANE Select | ENSP00000231228.2:p.Val215ArgfsTer7 | |
| ENST00000231228.2:c.642dup | ENSP00000231228.2:p.Val215ArgfsTer7 | |
| NM_002187.2:c.642dup , LRG_71t1:c.642dup | NP_002178.2:p.Val215ArgfsTer7 | |
| NM_002187.3:c.642dup MANE Select | NP_002178.2:p.Val215ArgfsTer7 |