Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208128309dup , CM000664.2:g.208128309dup | GRCh38 |
| NC_000002.11:g.208993033dup , CM000664.1:g.208993033dup | GRCh37 |
| NC_000002.10:g.208701278dup | NCBI36 |
| NG_008038.1:g.6526dup | |
| NG_008039.1:g.1285dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020989.4:c.423dup MANE Select | NP_066269.1:p.Arg142AlafsTer22 |
| ENST00000282141.4:c.423dup MANE Select | ENSP00000282141.3:p.Arg142AlafsTer22 |
| NM_020989.3:c.423dup | NP_066269.1:p.Arg142AlafsTer22 |
| NR_038437.1:n.98-8747dup | |
| ENST00000282141.3:c.423dup | ENSP00000282141.3:p.Arg142AlafsTer22 |
| XM_011510661.1:c.423dup | XP_011508963.1:p.Arg142AlafsTer22 |
| XM_011510662.1:c.423dup | XP_011508964.1:p.Arg142AlafsTer22 |
| XM_011510663.1:c.294dup | XP_011508965.1:p.Arg99AlafsTer22 |