Linked Data
ClinVar Variation Id:
53824
ClinVar RCV Id:
RCV000577182
dbSNP Id:
rs397508618
PubMed:
PMID:18782298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642575del , CM000669.2:g.117642575del | GRCh38 |
| NC_000007.13:g.117282629del , CM000669.1:g.117282629del | GRCh37 |
| NC_000007.12:g.117069865del | NCBI36 |
| NG_016465.4:g.181792del , LRG_663:g.181792del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*64del | ENSP00000497673.2:n.*64del | |
| ENST00000647978.2:c.*3569del | ENSP00000497658.1:n.*3569del | |
| ENST00000649781.2:c.3672del | ENSP00000497203.1:p.Phe1225LeufsTer3 | |
| ENST00000685018.2:c.3855del | ENSP00000510194.2:p.Phe1286LeufsTer3 | |
| ENST00000687278.2:c.*508del | ENSP00000509593.2:n.*508del | |
| ENST00000699585.1:c.*64del | ENSP00000514456.1:n.*64del | |
| ENST00000699598.1:c.3855del | ENSP00000514467.1:p.Phe1286LeufsTer3 | |
| ENST00000699599.1:c.3855del | ENSP00000514468.1:p.Phe1286LeufsTer3 | |
| ENST00000699600.1:c.*516del | ENSP00000514469.1:n.*516del | |
| ENST00000699601.1:c.*2230del | ENSP00000514470.1:n.*2230del | |
| ENST00000699602.1:c.3849del | ENSP00000514471.1:p.Phe1284LeufsTer3 | |
| ENST00000699604.1:c.*3679del | ENSP00000514472.1:n.*3679del | |
| ENST00000699605.1:c.3429del | ENSP00000514473.1:p.Phe1144LeufsTer3 | |
| ENST00000685018.1:c.603del | ENSP00000510194.1:p.Phe202LeufsTer3 | |
| ENST00000687278.1:c.1642del | ENSP00000509593.1:n.1642del | |
| ENST00000689011.1:c.437del | ||
| ENST00000003084.11:c.3855del MANE Select | ENSP00000003084.6:p.Phe1286LeufsTer3 | |
| ENST00000647720.1:c.1305del | ||
| ENST00000649781.1:c.3672del | ENSP00000497203.1:p.Phe1225LeufsTer3 | |
| ENST00000003084.10:c.3855del | ENSP00000003084.6:p.Phe1286LeufsTer3 | |
| ENST00000426809.5:c.3765del | ENSP00000389119.1:p.Phe1256LeufsTer3 | |
| NM_000492.3:c.3855del , LRG_663t1:c.3855del | NP_000483.3:p.Phe1286LeufsTer3 | |
| XM_011515751.1:c.3945del | XP_011514053.1:p.Phe1316LeufsTer3 | |
| XM_011515752.1:c.3945del | XP_011514054.1:p.Phe1316LeufsTer3 | |
| XM_011515753.1:c.3612del | XP_011514055.1:p.Phe1205LeufsTer3 | |
| XM_011515754.1:c.3612del | XP_011514056.1:p.Phe1205LeufsTer3 | |
| NM_000492.4:c.3855del MANE Select | NP_000483.3:p.Phe1286LeufsTer3 |