Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526686_7526689dup , CM000681.2:g.7526686_7526689dup | GRCh38 |
| NC_000019.9:g.7591572_7591575dup , CM000681.1:g.7591572_7591575dup | GRCh37 |
| NC_000019.8:g.7497572_7497575dup | NCBI36 |
| NG_015806.1:g.9077_9080dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.406-75_406-72dup MANE Select | ENSP00000264079.5:n.406-75_406-72dup | |
| ENST00000264079.10:c.406-75_406-72dup | ENSP00000264079.5:n.406-75_406-72dup | |
| ENST00000394321.9:n.486-75_486-72dup | ||
| ENST00000596008.1:n.368-75_368-72dup | ||
| ENST00000598406.1:n.227-75_227-72dup | ||
| ENST00000601003.1:c.406-75_406-72dup | ENSP00000469074.1:n.406-75_406-72dup | |
| NM_020533.2:c.406-75_406-72dup | NP_065394.1:n.406-75_406-72dup | |
| NM_020533.3:c.406-75_406-72dup MANE Select | NP_065394.1:n.406-75_406-72dup |