Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70178042_70178044dup , CM000679.2:g.70178042_70178044dup | GRCh38 |
| NC_000017.10:g.68174183_68174185dup , CM000679.1:g.68174183_68174185dup | GRCh37 |
| NC_000017.9:g.65685778_65685780dup | NCBI36 |
| NG_008798.1:g.13508_13510dup , LRG_328:g.13508_13510dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000891.3:c.*1719_*1721dup MANE Select | NP_000882.1:n.*1719_*1721dup |
| ENST00000243457.4:c.*1719_*1721dup MANE Select | ENSP00000243457.2:n.*1719_*1721dup |
| NM_000891.2:c.*1719_*1721dup , LRG_328t1:c.*1719_*1721dup | NP_000882.1:n.*1719_*1721dup |
| ENST00000243457.3:c.*1719_*1721dup | ENSP00000243457.2:n.*1719_*1721dup |