Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736500_153736501dup , CM000685.2:g.153736500_153736501dup | GRCh38 |
| NC_000023.10:g.153001954_153001955dup , CM000685.1:g.153001954_153001955dup | GRCh37 |
| NC_000023.9:g.152655148_152655149dup | NCBI36 |
| NG_009022.2:g.16633_16634dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1380_1381dup MANE Select | ENSP00000218104.3:p.Leu461ProfsTer2 | |
| ENST00000218104.5:c.1380_1381dup | ENSP00000218104.3:p.Leu461ProfsTer2 | |
| ENST00000443684.2:n.383_384dup | ||
| NM_000033.3:c.1380_1381dup | NP_000024.2:p.Leu461ProfsTer2 | |
| XR_938507.1:n.1796_1797dup | ||
| XR_938507.2:n.1796_1797dup | ||
| NM_000033.4:c.1380_1381dup MANE Select | NP_000024.2:p.Leu461ProfsTer2 |