Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128259144dup , CM000667.2:g.128259144dup | GRCh38 |
| NC_000005.9:g.127594836dup , CM000667.1:g.127594836dup | GRCh37 |
| NC_000005.8:g.127622735dup | NCBI36 |
| NG_008750.1:g.283912dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.*323dup MANE Select | NP_001990.2:n.*323dup |
| ENST00000262464.9:c.*323dup MANE Select | ENSP00000262464.4:n.*323dup |
| NM_001999.3:c.*323dup | NP_001990.2:n.*323dup |
| ENST00000262464.8:c.*323dup | ENSP00000262464.4:n.*323dup |
| ENST00000508053.5:c.*323dup | ENSP00000424571.1:n.*323dup |
| ENST00000619499.4:c.9059dup | ENSP00000482132.1:n.9059dup |
| XM_017009228.2:c.*323dup | XP_016864717.1:n.*323dup |