Linked Data
ClinVar Variation Id:
1411468
ClinVar RCV Id:
RCV001920657
dbSNP Id:
rs2116085331
gnomAD v4:
7-117611762-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611763del , CM000669.2:g.117611763del | GRCh38 |
| NC_000007.13:g.117251817del , CM000669.1:g.117251817del | GRCh37 |
| NC_000007.12:g.117039053del | NCBI36 |
| NG_016465.4:g.150980del , LRG_663:g.150980del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3322del | ENSP00000497673.2:p.Val1108SerfsTer13 | |
| ENST00000647978.2:c.*3036del | ENSP00000497658.1:n.*3036del | |
| ENST00000649781.2:c.3139del | ENSP00000497203.1:p.Val1047SerfsTer13 | |
| ENST00000685018.2:c.3322del | ENSP00000510194.2:p.Val1108SerfsTer13 | |
| ENST00000687278.2:c.3322del | ENSP00000509593.2:p.Val1108SerfsTer13 | |
| ENST00000699585.1:c.3322del | ENSP00000514456.1:p.Val1108SerfsTer13 | |
| ENST00000699598.1:c.3322del | ENSP00000514467.1:p.Val1108SerfsTer13 | |
| ENST00000699599.1:c.3322del | ENSP00000514468.1:p.Val1108SerfsTer13 | |
| ENST00000699600.1:c.3322del | ENSP00000514469.1:p.Val1108SerfsTer13 | |
| ENST00000699601.1:c.*1622del | ENSP00000514470.1:n.*1622del | |
| ENST00000699602.1:c.3322del | ENSP00000514471.1:p.Val1108SerfsTer13 | |
| ENST00000699604.1:c.*3146del | ENSP00000514472.1:n.*3146del | |
| ENST00000699605.1:c.2896del | ENSP00000514473.1:p.Val966SerfsTer13 | |
| ENST00000685018.1:c.70del | ENSP00000510194.1:p.Val24SerfsTer13 | |
| ENST00000687278.1:c.913del | ENSP00000509593.1:p.Val305SerfsTer13 | |
| ENST00000003084.11:c.3322del MANE Select | ENSP00000003084.6:p.Val1108SerfsTer13 | |
| ENST00000647720.1:c.972del | ||
| ENST00000648260.1:c.2104del | ENSP00000497957.1:p.Val702SerfsTer13 | |
| ENST00000649406.1:c.3139del | ENSP00000497965.1:p.Val1047SerfsTer13 | |
| ENST00000649781.1:c.3139del | ENSP00000497203.1:p.Val1047SerfsTer13 | |
| ENST00000003084.10:c.3322del | ENSP00000003084.6:p.Val1108SerfsTer13 | |
| ENST00000426809.5:c.3232del | ENSP00000389119.1:p.Val1078SerfsTer13 | |
| ENST00000468795.1:c.147del | ||
| NM_000492.3:c.3322del , LRG_663t1:c.3322del | NP_000483.3:p.Val1108SerfsTer13 | |
| XM_011515751.1:c.3412del | XP_011514053.1:p.Val1138SerfsTer13 | |
| XM_011515752.1:c.3412del | XP_011514054.1:p.Val1138SerfsTer13 | |
| XM_011515753.1:c.3079del | XP_011514055.1:p.Val1027SerfsTer13 | |
| XM_011515754.1:c.3079del | XP_011514056.1:p.Val1027SerfsTer13 | |
| NM_000492.4:c.3322del MANE Select | NP_000483.3:p.Val1108SerfsTer13 |