Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49990304dup , CM000679.2:g.49990304dup | GRCh38 |
| NC_000017.10:g.48067668dup , CM000679.1:g.48067668dup | GRCh37 |
| NC_000017.9:g.45422667dup | NCBI36 |
| NG_023063.1:g.9932dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005220.3:c.*1224dup MANE Select | NP_005211.1:n.*1224dup |
| ENST00000434704.2:c.*1224dup MANE Select | ENSP00000389870.2:n.*1224dup |
| NM_005220.2:c.*1224dup | NP_005211.1:n.*1224dup |
| XM_011524458.1:c.516+3107dup | XP_011522760.1:n.516+3107dup |