Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535583dup , CM000663.2:g.1535583dup | GRCh38 |
| NC_000001.10:g.1470963dup , CM000663.1:g.1470963dup | GRCh37 |
| NC_000001.9:g.1460826dup | NCBI36 |
| NG_041807.1:g.9778dup | |
| NG_053035.1:g.28441dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.373+6dup MANE Select | ENSP00000368007.4:n.373+6dup | |
| ENST00000378733.8:c.373+6dup | ENSP00000368007.4:n.373+6dup | |
| ENST00000425828.1:c.373+6dup | ENSP00000400311.1:n.373+6dup | |
| NM_001114748.1:c.373+6dup | NP_001108220.1:n.373+6dup | |
| NM_001114748.2:c.373+6dup MANE Select | NP_001108220.1:n.373+6dup |