ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11950456del , CM000663.2:g.11950456del | GRCh38 |
| NC_000001.10:g.12010513del , CM000663.1:g.12010513del | GRCh37 |
| NC_000001.9:g.11933100del | NCBI36 |
| NG_008159.1:g.20768del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.402del MANE Select | ENSP00000196061.4:p.Asp135ThrfsTer? | |
| ENST00000196061.4:c.402del | ENSP00000196061.4:p.Asp135ThrfsTer? | |
| ENST00000358133.5:n.448del | ||
| ENST00000429000.6:c.402del | ENSP00000405372.1:p.Asp135ThrfsTer? | |
| ENST00000449038.5:c.543del | ENSP00000414443.1:p.Asp182ThrfsTer? | |
| ENST00000485046.5:n.445del | ||
| NM_000302.3:c.402del | NP_000293.2:p.Asp135ThrfsTer? | |
| NM_001316320.1:c.543del | NP_001303249.1:p.Asp182ThrfsTer? | |
| XM_011541594.1:c.483del | XP_011539896.1:p.Asp162ThrfsTer? | |
| XM_024447707.1:c.-265del | XP_024303475.1:n.-265del | |
| NM_000302.4:c.402del MANE Select | NP_000293.2:p.Asp135ThrfsTer? | |
| NM_001316320.2:c.543del | NP_001303249.1:p.Asp182ThrfsTer? |