Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287446_44287462dup , CM000683.2:g.44287446_44287462dup | GRCh38 |
| NC_000021.8:g.45707329_45707345dup , CM000683.1:g.45707329_45707345dup | GRCh37 |
| NC_000021.7:g.44531757_44531773dup | NCBI36 |
| NG_009556.1:g.6567_6583dup , LRG_18:g.6567_6583dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.464-71_464-55dup MANE Select | ENSP00000291582.5:n.464-71_464-55dup | |
| ENST00000291582.5:c.464-71_464-55dup | ENSP00000291582.5:n.464-71_464-55dup | |
| ENST00000527919.5:n.937_953dup | ||
| ENST00000530812.5:n.945_961dup | ||
| NM_000383.3:c.464-71_464-55dup | NP_000374.1:n.464-71_464-55dup | |
| XM_011529551.1:c.464-71_464-55dup | XP_011527853.1:n.464-71_464-55dup | |
| NM_000383.4:c.464-71_464-55dup MANE Select | NP_000374.1:n.464-71_464-55dup |