Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408907dup , CM000685.2:g.38408907dup | GRCh38 |
| NC_000023.10:g.38268160dup , CM000685.1:g.38268160dup | GRCh37 |
| NC_000023.9:g.38153104dup | NCBI36 |
| NG_008471.1:g.61425dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.749dup MANE Select | ENSP00000039007.4:p.Leu251IlefsTer? | |
| ENST00000643344.1:c.*499dup | ENSP00000496606.1:n.*499dup | |
| ENST00000039007.4:c.749dup | ENSP00000039007.4:p.Leu251IlefsTer? | |
| ENST00000465127.1:c.172-257214dup | ENSP00000417050.1:n.172-257214dup | |
| NM_000531.5:c.749dup | NP_000522.3:p.Leu251IlefsTer? | |
| XM_017029556.1:c.749dup | XP_016885045.1:p.Leu251IlefsTer? | |
| NM_000531.6:c.749dup MANE Select | NP_000522.3:p.Leu251IlefsTer? |