Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133303017_133303020dup , CM000685.2:g.133303017_133303020dup | GRCh38 |
| NC_000023.10:g.132437045_132437048dup , CM000685.1:g.132437045_132437048dup | GRCh37 |
| NC_000023.9:g.132264711_132264714dup | NCBI36 |
| NG_012498.1:g.117158_117161dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001448.3:c.1518_1521dup MANE Select | NP_001439.2:p.Pro508ValfsTer6 |
| ENST00000370828.4:c.1518_1521dup MANE Select | ENSP00000359864.3:p.Pro508ValfsTer6 |
| NM_001448.2:c.1518_1521dup | NP_001439.2:p.Pro508ValfsTer6 |
| ENST00000370828.3:c.1518_1521dup | ENSP00000359864.3:p.Pro508ValfsTer6 |