Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928677_154928678dup , CM000685.2:g.154928677_154928678dup | GRCh38 |
| NC_000023.10:g.154156952_154156953dup , CM000685.1:g.154156952_154156953dup | GRCh37 |
| NC_000023.9:g.153810146_153810147dup | NCBI36 |
| NG_011403.1:g.99046_99047dup | |
| NG_011403.2:g.99046_99047dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.5112_5113dup MANE Select | ENSP00000353393.4:p.Gln1705LeufsTer27 | |
| ENST00000360256.8:c.5112_5113dup | ENSP00000353393.4:p.Gln1705LeufsTer27 | |
| NM_000132.3:c.5112_5113dup | NP_000123.1:p.Gln1705LeufsTer27 | |
| XM_011531126.1:c.5007_5008dup | XP_011529428.1:p.Gln1670LeufsTer27 | |
| NM_000132.4:c.5112_5113dup MANE Select | NP_000123.1:p.Gln1705LeufsTer27 |