Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740530dup , CM000666.2:g.67740530dup | GRCh38 |
| NC_000004.11:g.68606248dup , CM000666.1:g.68606248dup | GRCh37 |
| NC_000004.10:g.68288843dup | NCBI36 |
| NG_009293.1:g.20561dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.941dup MANE Select | ENSP00000226413.5:p.Leu314PhefsTer6 | |
| ENST00000226413.4:c.941dup | ENSP00000226413.4:p.Leu314PhefsTer6 | |
| ENST00000420975.2:c.813dup | ENSP00000397561.2:n.813dup | |
| NM_000406.2:c.941dup | NP_000397.1:p.Leu314PhefsTer6 | |
| NM_001012763.1:c.*63dup | NP_001012781.1:n.*63dup | |
| NM_000406.3:c.941dup MANE Select | NP_000397.1:p.Leu314PhefsTer6 | |
| NM_001012763.2:c.*63dup | NP_001012781.1:n.*63dup |