Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007226_25007278dup , CM000685.2:g.25007226_25007278dup | GRCh38 |
| NC_000023.10:g.25025343_25025395dup , CM000685.1:g.25025343_25025395dup | GRCh37 |
| NC_000023.9:g.24935264_24935316dup | NCBI36 |
| NG_008281.1:g.13677_13729dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1287_1339dup MANE Select | ENSP00000368332.4:p.Pro447LeufsTer34 | |
| ENST00000379044.4:c.1287_1339dup | ENSP00000368332.4:p.Pro447LeufsTer34 | |
| NM_139058.2:c.1287_1339dup | NP_620689.1:p.Pro447LeufsTer34 | |
| NM_139058.3:c.1287_1339dup MANE Select | NP_620689.1:p.Pro447LeufsTer34 |