Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524967_7524970dup , CM000681.2:g.7524967_7524970dup | GRCh38 |
| NC_000019.9:g.7589853_7589856dup , CM000681.1:g.7589853_7589856dup | GRCh37 |
| NC_000019.8:g.7495853_7495856dup | NCBI36 |
| NG_015806.1:g.7358_7361dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.38_41dup MANE Select | NP_065394.1:p.Leu15AlafsTer? |
| ENST00000264079.11:c.38_41dup MANE Select | ENSP00000264079.5:p.Leu15AlafsTer? |
| NM_020533.2:c.38_41dup | NP_065394.1:p.Leu15AlafsTer? |
| ENST00000264079.10:c.38_41dup | ENSP00000264079.5:p.Leu15AlafsTer? |
| ENST00000394321.9:n.118_121dup | |
| ENST00000596390.1:n.154_157dup | |
| ENST00000601003.1:c.38_41dup | ENSP00000469074.1:p.Leu15AlafsTer? |
| XR_936293.2:n.13_16dup | |
| XR_936294.2:n.13_16dup |