gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7584885dup , CM000668.2:g.7584885dup | GRCh38 |
| NC_000006.11:g.7585118dup , CM000668.1:g.7585118dup | GRCh37 |
| NC_000006.10:g.7530117dup | NCBI36 |
| NG_008803.1:g.48249dup , LRG_423:g.48249dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6294dup | ENSP00000518230.1:p.Lys2099GlufsTer4 | |
| ENST00000379802.8:c.7623dup MANE Select | ENSP00000369129.3:p.Lys2542GlufsTer4 | |
| ENST00000379802.7:c.7623dup | ENSP00000369129.3:p.Lys2542GlufsTer4 | |
| ENST00000418664.2:c.5826dup | ENSP00000396591.2:p.Lys1943GlufsTer4 | |
| NM_001008844.1:c.5826dup | NP_001008844.1:p.Lys1943GlufsTer4 | |
| NM_004415.2:c.7623dup , LRG_423t1:c.7623dup | NP_004406.2:p.Lys2542GlufsTer4 | |
| XM_011514323.1:c.6294dup | XP_011512625.1:p.Lys2099GlufsTer4 | |
| NM_001008844.2:c.5826dup | NP_001008844.1:p.Lys1943GlufsTer4 | |
| NM_001319034.1:c.6294dup | NP_001305963.1:p.Lys2099GlufsTer4 | |
| NM_004415.3:c.7623dup | NP_004406.2:p.Lys2542GlufsTer4 | |
| NM_004415.4:c.7623dup MANE Select | NP_004406.2:p.Lys2542GlufsTer4 | |
| NM_001008844.3:c.5826dup | NP_001008844.1:p.Lys1943GlufsTer4 | |
| NM_001319034.2:c.6294dup | NP_001305963.1:p.Lys2099GlufsTer4 |