ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41140997_41140998del , CM000685.2:g.41140997_41140998del | GRCh38 |
| NC_000023.10:g.41000250_41000251del , CM000685.1:g.41000250_41000251del | GRCh37 |
| NC_000023.9:g.40885194_40885195del | NCBI36 |
| NG_012547.1:g.60363_60364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703986.1:c.802_803del | ENSP00000515603.1:p.Leu268SerfsTer23 | |
| ENST00000703987.1:c.802_803del | ENSP00000515604.1:p.Leu268SerfsTer23 | |
| ENST00000704649.1:c.802_803del | ENSP00000515974.1:p.Leu268SerfsTer23 | |
| ENST00000704650.1:c.802_803del | ENSP00000515975.1:p.Leu268SerfsTer23 | |
| ENST00000704651.1:c.802_803del | ENSP00000515976.1:p.Leu268SerfsTer23 | |
| ENST00000704652.1:c.32_33del | ||
| ENST00000324545.9:c.802_803del | ENSP00000316357.6:p.Leu268SerfsTer23 | |
| ENST00000378308.7:c.802_803del MANE Select | ENSP00000367558.2:p.Leu268SerfsTer23 | |
| ENST00000324545.8:c.802_803del | ENSP00000316357.6:p.Leu268SerfsTer23 | |
| ENST00000378308.6:c.802_803del | ENSP00000367558.2:p.Leu268SerfsTer23 | |
| NM_001039590.2:c.802_803del | NP_001034679.2:p.Leu268SerfsTer23 | |
| NM_001039591.2:c.802_803del | NP_001034680.2:p.Leu268SerfsTer23 | |
| XM_005272675.3:c.802_803del | XP_005272732.1:p.Leu268SerfsTer23 | |
| XM_005272676.3:c.802_803del | XP_005272733.1:p.Leu268SerfsTer23 | |
| XM_005272675.4:c.802_803del | XP_005272732.1:p.Leu268SerfsTer23 | |
| XM_005272676.4:c.802_803del | XP_005272733.1:p.Leu268SerfsTer23 | |
| NM_001039591.3:c.802_803del MANE Select | NP_001034680.2:p.Leu268SerfsTer23 | |
| NM_001039590.3:c.802_803del | NP_001034679.2:p.Leu268SerfsTer23 |