Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953865_154953866insTT , CM000685.2:g.154953865_154953866insTT | GRCh38 |
| NC_000023.10:g.154182140_154182141insTT , CM000685.1:g.154182140_154182141insTT | GRCh37 |
| NC_000023.9:g.153835334_153835335insTT | NCBI36 |
| NG_011403.1:g.73858_73859insAA | |
| NG_011403.2:g.73858_73859insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1903+26_1903+27insAA MANE Select | ENSP00000353393.4:n.1903+26_1903+27insAA | |
| ENST00000647125.1:c.*1779+26_*1779+27insAA | ENSP00000496062.1:n.*1779+26_*1779+27insAA | |
| ENST00000360256.8:c.1903+26_1903+27insAA | ENSP00000353393.4:n.1903+26_1903+27insAA | |
| NM_000132.3:c.1903+26_1903+27insAA | NP_000123.1:n.1903+26_1903+27insAA | |
| XM_011531126.1:c.1798+26_1798+27insAA | XP_011529428.1:n.1798+26_1798+27insAA | |
| NM_000132.4:c.1903+26_1903+27insAA MANE Select | NP_000123.1:n.1903+26_1903+27insAA |