Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21215752dup , CM000674.2:g.21215752dup | GRCh38 |
| NC_000012.11:g.21368686dup , CM000674.1:g.21368686dup | GRCh37 |
| NC_000012.10:g.21259953dup | NCBI36 |
| NG_011745.1:g.89559dup , LRG_1022:g.89559dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.1498-1367dup MANE Select | ENSP00000256958.2:n.1498-1367dup | |
| ENST00000256958.2:c.1498-1367dup | ENSP00000256958.2:n.1498-1367dup | |
| NM_006446.4:c.1498-1367dup , LRG_1022t1:c.1498-1367dup | NP_006437.3:n.1498-1367dup | |
| NM_006446.5:c.1498-1367dup MANE Select | NP_006437.3:n.1498-1367dup |