Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007377dup , CM000685.2:g.25007377dup | GRCh38 |
| NC_000023.10:g.25025494dup , CM000685.1:g.25025494dup | GRCh37 |
| NC_000023.9:g.24935415dup | NCBI36 |
| NG_008281.1:g.13577dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.1187dup MANE Select | NP_620689.1:p.Gly397TrpfsTer? |
| ENST00000379044.5:c.1187dup MANE Select | ENSP00000368332.4:p.Gly397TrpfsTer? |
| NM_139058.2:c.1187dup | NP_620689.1:p.Gly397TrpfsTer? |
| ENST00000379044.4:c.1187dup | ENSP00000368332.4:p.Gly397TrpfsTer? |