Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743095_153743099dup , CM000685.2:g.153743095_153743099dup | GRCh38 |
| NC_000023.10:g.153008549_153008553dup , CM000685.1:g.153008549_153008553dup | GRCh37 |
| NC_000023.9:g.152661743_152661747dup | NCBI36 |
| NG_009022.2:g.23228_23232dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1865+24_1865+28dup MANE Select | ENSP00000218104.3:n.1865+24_1865+28dup | |
| ENST00000218104.5:c.1865+24_1865+28dup | ENSP00000218104.3:n.1865+24_1865+28dup | |
| NM_000033.3:c.1865+24_1865+28dup | NP_000024.2:n.1865+24_1865+28dup | |
| XR_938507.1:n.2337+24_2337+28dup | ||
| XR_938507.2:n.2337+24_2337+28dup | ||
| NM_000033.4:c.1865+24_1865+28dup MANE Select | NP_000024.2:n.1865+24_1865+28dup |