Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736131_153736138dup , CM000685.2:g.153736131_153736138dup | GRCh38 |
| NC_000023.10:g.153001585_153001592dup , CM000685.1:g.153001585_153001592dup | GRCh37 |
| NC_000023.9:g.152654779_152654786dup | NCBI36 |
| NG_009022.2:g.16264_16271dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1101_1108dup MANE Select | ENSP00000218104.3:p.Leu370TrpfsTer12 | |
| ENST00000218104.5:c.1101_1108dup | ENSP00000218104.3:p.Leu370TrpfsTer12 | |
| ENST00000443684.2:n.104_111dup | ||
| NM_000033.3:c.1101_1108dup | NP_000024.2:p.Leu370TrpfsTer12 | |
| XR_938507.1:n.1517_1524dup | ||
| XR_938507.2:n.1517_1524dup | ||
| NM_000033.4:c.1101_1108dup MANE Select | NP_000024.2:p.Leu370TrpfsTer12 |