Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270457dup , CM000668.2:g.31270457dup | GRCh38 |
| NC_000006.11:g.31238234dup , CM000668.1:g.31238234dup | GRCh37 |
| NC_000006.10:g.31346213dup | NCBI36 |
| NG_029422.2:g.6679dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.652dup MANE Select | ENSP00000365402.5:p.Leu218ProfsTer3 | |
| ENST00000376228.9:c.652dup | ENSP00000365402.5:p.Leu218ProfsTer3 | |
| ENST00000376237.8:c.*239dup | ENSP00000365412.4:n.*239dup | |
| ENST00000383329.7:c.652dup | ENSP00000372819.3:p.Leu218ProfsTer3 | |
| ENST00000415537.1:c.650dup | ||
| ENST00000487245.5:n.1011dup | ||
| ENST00000495835.1:n.841dup | ||
| NM_002117.5:c.652dup | NP_002108.4:p.Leu218ProfsTer3 | |
| NM_002117.6:c.652dup MANE Select | NP_002108.4:p.Leu218ProfsTer3 |