Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119669950_119669954dup , CM000672.2:g.119669950_119669954dup | GRCh38 |
| NC_000010.10:g.121429462_121429466dup , CM000672.1:g.121429462_121429466dup | GRCh37 |
| NC_000010.9:g.121419452_121419456dup | NCBI36 |
| NG_016125.1:g.23581_23585dup , LRG_742:g.23581_23585dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.280_284dup MANE Select | ENSP00000358081.4:p.Ile96PhefsTer? | |
| ENST00000369085.7:c.280_284dup | ENSP00000358081.3:p.Ile96PhefsTer? | |
| ENST00000450186.1:c.106_110dup | ENSP00000410036.1:p.Ile38PhefsTer? | |
| NM_004281.3:c.280_284dup , LRG_742t1:c.280_284dup | NP_004272.2:p.Ile96PhefsTer? | |
| XM_005270287.1:c.280_284dup | XP_005270344.1:p.Ile96PhefsTer? | |
| XM_005270287.2:c.280_284dup | XP_005270344.1:p.Ile96PhefsTer? | |
| NM_004281.4:c.280_284dup MANE Select | NP_004272.2:p.Ile96PhefsTer? |