Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169544440_169544441dup , CM000663.2:g.169544440_169544441dup | GRCh38 |
| NC_000001.10:g.169513678_169513679dup , CM000663.1:g.169513678_169513679dup | GRCh37 |
| NC_000001.9:g.167780302_167780303dup | NCBI36 |
| NG_011806.1:g.47091_47092dup , LRG_553:g.47091_47092dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.1830_1831dup MANE Select | NP_000121.2:p.His611ArgfsTer13 |
| ENST00000367797.9:c.1830_1831dup MANE Select | ENSP00000356771.3:p.His611ArgfsTer13 |
| NM_000130.4:c.1830_1831dup , LRG_553t1:c.1830_1831dup | NP_000121.2:p.His611ArgfsTer13 |
| ENST00000367796.3:c.1845_1846dup | ENSP00000356770.3:p.His616ArgfsTer13 |
| ENST00000367797.7:c.1830_1831dup | ENSP00000356771.3:p.His611ArgfsTer13 |
| XM_017000660.2:c.1419_1420dup | XP_016856149.1:p.His474ArgfsTer13 |