Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293000dup , CM000683.2:g.44293000dup | GRCh38 |
| NC_000021.8:g.45712883dup , CM000683.1:g.45712883dup | GRCh37 |
| NC_000021.7:g.44537311dup | NCBI36 |
| NG_009556.1:g.12121dup , LRG_18:g.12121dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1103dup MANE Select | NP_000374.1:p.Leu370AlafsTer2 |
| ENST00000291582.6:c.1103dup MANE Select | ENSP00000291582.5:p.Leu370AlafsTer2 |
| NM_000383.3:c.1103dup | NP_000374.1:p.Leu370AlafsTer2 |
| ENST00000291582.5:c.1103dup | ENSP00000291582.5:p.Leu370AlafsTer2 |
| ENST00000337909.5:n.564dup | |
| ENST00000397994.8:n.564dup | |
| ENST00000527919.5:n.1833dup | |
| ENST00000530812.5:n.2850dup | |
| XM_011529551.1:c.1100dup | XP_011527853.1:p.Leu369AlafsTer2 |