Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911105_110911107dup , CM000674.2:g.110911105_110911107dup | GRCh38 |
| NC_000012.11:g.111348909_111348911dup , CM000674.1:g.111348909_111348911dup | GRCh37 |
| NC_000012.10:g.109833292_109833294dup | NCBI36 |
| NG_007554.1:g.14476_14478dup , LRG_393:g.14476_14478dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.476_478dup MANE Select | NP_000423.2:p.Ile159_Thr160insIle |
| ENST00000228841.15:c.476_478dup MANE Select | ENSP00000228841.8:p.Ile159_Thr160insIle |
| NM_000432.3:c.476_478dup , LRG_393t1:c.476_478dup | NP_000423.2:p.Ile159_Thr160insIle |
| ENST00000228841.12:c.476_478dup | ENSP00000228841.7:p.Ile159_Thr160insIle |
| ENST00000548438.1:c.434_436dup | ENSP00000447154.1:p.Ile145_Thr146insIle |
| ENST00000663220.1:c.419_421dup | ENSP00000499568.1:p.Ile140_Thr141insIle |