ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1769886_1769887del , CM000679.2:g.1769886_1769887del | GRCh38 |
| NC_000017.10:g.1673180_1673181del , CM000679.1:g.1673180_1673181del | GRCh37 |
| NC_000017.9:g.1619930_1619931del | NCBI36 |
| NG_028180.1:g.12922_12923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.119_120del MANE Select | ENSP00000254722.4:p.Val40GlyfsTer24 | |
| ENST00000254722.8:c.119_120del | ENSP00000254722.4:p.Val40GlyfsTer24 | |
| ENST00000570731.5:c.119_120del | ENSP00000459869.1:p.Val40GlyfsTer24 | |
| ENST00000571149.5:c.119_120del | ENSP00000460905.1:p.Val40GlyfsTer24 | |
| ENST00000571360.5:c.85-5_85-4del | ENSP00000461660.1:n.85-5_85-4del | |
| ENST00000571870.5:n.360_361del | ||
| ENST00000573770.5:c.119_120del | ENSP00000459107.1:p.Val40GlyfsTer24 | |
| ENST00000576406.5:c.-443_-442del | ENSP00000461214.1:n.-443_-442del | |
| ENST00000577053.1:c.119_120del | ENSP00000460842.1:p.Val40GlyfsTer24 | |
| NM_002615.5:c.119_120del | NP_002606.3:p.Val40GlyfsTer24 | |
| NM_001329903.1:c.119_120del | NP_001316832.1:p.Val40GlyfsTer24 | |
| NM_001329904.1:c.-443_-442del | NP_001316833.1:n.-443_-442del | |
| NM_002615.6:c.119_120del | NP_002606.3:p.Val40GlyfsTer24 | |
| NM_002615.7:c.119_120del MANE Select | NP_002606.3:p.Val40GlyfsTer24 | |
| NM_001329903.2:c.119_120del | NP_001316832.1:p.Val40GlyfsTer24 | |
| NM_001329904.2:c.-443_-442del | NP_001316833.1:n.-443_-442del |