Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904066_154904067dup , CM000685.2:g.154904066_154904067dup | GRCh38 |
| NC_000023.10:g.154132341_154132342dup , CM000685.1:g.154132341_154132342dup | GRCh37 |
| NC_000023.9:g.153785535_153785536dup | NCBI36 |
| NG_011403.1:g.123658_123659dup | |
| NG_011403.2:g.123658_123659dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5838_5839dup MANE Select | ENSP00000353393.4:p.Thr1947IlefsTer6 | |
| ENST00000360256.8:c.5838_5839dup | ENSP00000353393.4:p.Thr1947IlefsTer6 | |
| NM_000132.3:c.5838_5839dup | NP_000123.1:p.Thr1947IlefsTer6 | |
| XM_011531126.1:c.5733_5734dup | XP_011529428.1:p.Thr1912IlefsTer6 | |
| NM_000132.4:c.5838_5839dup MANE Select | NP_000123.1:p.Thr1947IlefsTer6 |