Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221412dup , CM000679.2:g.30221412dup | GRCh38 |
| NC_000017.10:g.28548430dup , CM000679.1:g.28548430dup | GRCh37 |
| NC_000017.9:g.25572556dup | NCBI36 |
| NG_011747.2:g.19527dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+206dup MANE Select | ENSP00000498537.1:n.343+206dup | |
| ENST00000261707.7:c.343+206dup | ENSP00000261707.3:n.343+206dup | |
| ENST00000394821.2:c.343+206dup | ENSP00000378298.2:n.343+206dup | |
| ENST00000401766.6:c.343+206dup | ENSP00000385822.2:n.343+206dup | |
| NM_001045.5:c.343+206dup | NP_001036.1:n.343+206dup | |
| NM_001045.6:c.343+206dup MANE Select | NP_001036.1:n.343+206dup |