Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24348109dup , CM000668.2:g.24348109dup | GRCh38 |
| NC_000006.11:g.24348337dup , CM000668.1:g.24348337dup | GRCh37 |
| NC_000006.10:g.24456316dup | NCBI36 |
| NG_012829.1:g.14947dup | |
| NG_012829.2:g.40187dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.348+5463dup MANE Select | ENSP00000367715.3:n.348+5463dup | |
| ENST00000378454.7:c.348+5463dup | ENSP00000367715.3:n.348+5463dup | |
| NM_001195610.1:c.348+5463dup | NP_001182539.1:n.348+5463dup | |
| NM_016356.4:c.348+5463dup | NP_057440.2:n.348+5463dup | |
| NM_016356.5:c.348+5463dup MANE Select | NP_057440.2:n.348+5463dup | |
| NM_001195610.2:c.348+5463dup | NP_001182539.1:n.348+5463dup |