Linked Data
ClinVar Variation Id:
551804
ClinVar RCV Id:
RCV000666949
dbSNP Id:
rs1554397593
MyVariant Identifiers:
chr7:g.117665521del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665521del , CM000669.2:g.117665521del | GRCh38 |
| NC_000007.13:g.117305575del , CM000669.1:g.117305575del | GRCh37 |
| NC_000007.12:g.117092811del | NCBI36 |
| NG_016465.4:g.204738del , LRG_663:g.204738del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*408del | ENSP00000497673.2:n.*408del | |
| ENST00000647978.2:c.*3913del | ENSP00000497658.1:n.*3913del | |
| ENST00000649781.2:c.4016del | ENSP00000497203.1:p.Cys1339LeufsTer5 | |
| ENST00000685018.2:c.*412del | ENSP00000510194.2:n.*412del | |
| ENST00000687278.2:c.*852del | ENSP00000509593.2:n.*852del | |
| ENST00000699585.1:c.*408del | ENSP00000514456.1:n.*408del | |
| ENST00000699598.1:c.4199del | ENSP00000514467.1:p.Cys1400LeufsTer5 | |
| ENST00000699599.1:c.*412del | ENSP00000514468.1:n.*412del | |
| ENST00000699600.1:c.*860del | ENSP00000514469.1:n.*860del | |
| ENST00000699601.1:c.*2574del | ENSP00000514470.1:n.*2574del | |
| ENST00000699602.1:c.4193del | ENSP00000514471.1:p.Cys1398LeufsTer5 | |
| ENST00000699604.1:c.*4023del | ENSP00000514472.1:n.*4023del | |
| ENST00000699605.1:c.3773del | ENSP00000514473.1:p.Cys1258LeufsTer5 | |
| ENST00000699606.1:n.2367del | ||
| ENST00000685018.1:c.1063del | ENSP00000510194.1:n.1063del | |
| ENST00000687278.1:c.1986del | ENSP00000509593.1:n.1986del | |
| ENST00000689011.1:c.781del | ||
| ENST00000003084.11:c.4199del MANE Select | ENSP00000003084.6:p.Cys1400LeufsTer5 | |
| ENST00000647720.1:c.1649del | ||
| ENST00000649781.1:c.4016del | ENSP00000497203.1:p.Cys1339LeufsTer5 | |
| ENST00000003084.10:c.4199del | ENSP00000003084.6:p.Cys1400LeufsTer5 | |
| ENST00000426809.5:c.4109del | ENSP00000389119.1:p.Cys1370LeufsTer5 | |
| ENST00000600166.1:c.325del | ||
| NM_000492.3:c.4199del , LRG_663t1:c.4199del | NP_000483.3:p.Cys1400LeufsTer5 | |
| XM_011515751.1:c.4289del | XP_011514053.1:p.Cys1430LeufsTer5 | |
| XM_011515752.1:c.4289del | XP_011514054.1:p.Cys1430LeufsTer5 | |
| XM_011515753.1:c.3956del | XP_011514055.1:p.Cys1319LeufsTer5 | |
| XM_011515754.1:c.3956del | XP_011514056.1:p.Cys1319LeufsTer5 | |
| NM_000492.4:c.4199del MANE Select | NP_000483.3:p.Cys1400LeufsTer5 |