Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533938dup , CM000681.2:g.7533938dup | GRCh38 |
| NC_000019.9:g.7598824dup , CM000681.1:g.7598824dup | GRCh37 |
| NC_000019.8:g.7504824dup | NCBI36 |
| NG_013374.1:g.4787dup | |
| NG_015806.1:g.16329dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*143dup MANE Select | ENSP00000264079.5:n.*143dup | |
| ENST00000264079.10:c.*143dup | ENSP00000264079.5:n.*143dup | |
| ENST00000394321.9:n.2201dup | ||
| ENST00000599334.1:c.614dup | ||
| ENST00000601870.1:c.169+70dup | ||
| ENST00000602227.1:n.440dup | ||
| NM_020533.2:c.*143dup | NP_065394.1:n.*143dup | |
| NM_020533.3:c.*143dup MANE Select | NP_065394.1:n.*143dup |