Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853337dup , CM000681.2:g.853337dup | GRCh38 |
| NC_000019.9:g.853337dup , CM000681.1:g.853337dup | GRCh37 |
| NC_000019.8:g.804337dup | NCBI36 |
| NG_009627.1:g.6047dup , LRG_57:g.6047dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.300dup MANE Select | ENSP00000263621.1:p.Val101ArgfsTer? | |
| ENST00000263621.1:c.300dup | ENSP00000263621.1:p.Val101ArgfsTer? | |
| ENST00000590230.5:c.300dup | ENSP00000466090.1:p.Val101ArgfsTer? | |
| NM_001972.2:c.300dup , LRG_57t1:c.300dup | NP_001963.1:p.Val101ArgfsTer? | |
| XM_011527775.1:c.300dup | XP_011526077.1:p.Val101ArgfsTer? | |
| XM_011527776.1:c.300dup | XP_011526078.1:p.Val101ArgfsTer? | |
| NM_001972.3:c.300dup | NP_001963.1:p.Val101ArgfsTer? | |
| NM_001972.4:c.300dup MANE Select | NP_001963.1:p.Val101ArgfsTer? |