Linked Data
ClinVar Variation Id:
35849
dbSNP Id:
rs193922510
gnomAD v3:
7-117603683-C-CT
gnomAD v4:
7-117603683-C-CT
MyVariant Identifiers:
chr7:g.117243738dupT (hg19)
chr7:g.117243737_117243738insT (hg19)
chr7:g.117603684dupT (hg38)
chr7:g.117603683_117603684insT (hg38)
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603684dup , CM000669.2:g.117603684dup | GRCh38 |
| NC_000007.13:g.117243738dup , CM000669.1:g.117243738dup | GRCh37 |
| NC_000007.12:g.117030974dup | NCBI36 |
| NG_016465.4:g.142901dup , LRG_663:g.142901dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2810dup | ENSP00000497673.2:p.Val938GlyfsTer? | |
| ENST00000647978.2:c.*2524dup | ENSP00000497658.1:n.*2524dup | |
| ENST00000649781.2:c.2627dup | ENSP00000497203.1:p.Val877GlyfsTer? | |
| ENST00000685018.2:c.2810dup | ENSP00000510194.2:p.Val938GlyfsTer? | |
| ENST00000687278.2:c.2810dup | ENSP00000509593.2:p.Val938GlyfsTer? | |
| ENST00000699585.1:c.2810dup | ENSP00000514456.1:p.Val938GlyfsTer? | |
| ENST00000699598.1:c.2810dup | ENSP00000514467.1:p.Val938GlyfsTer? | |
| ENST00000699599.1:c.2810dup | ENSP00000514468.1:p.Val938GlyfsTer? | |
| ENST00000699600.1:c.2810dup | ENSP00000514469.1:p.Val938GlyfsTer? | |
| ENST00000699601.1:c.*1110dup | ENSP00000514470.1:n.*1110dup | |
| ENST00000699602.1:c.2810dup | ENSP00000514471.1:p.Val938GlyfsTer? | |
| ENST00000699604.1:c.*2634dup | ENSP00000514472.1:n.*2634dup | |
| ENST00000699605.1:c.2384dup | ENSP00000514473.1:p.Val796GlyfsTer? | |
| ENST00000687278.1:c.401dup | ENSP00000509593.1:p.Val135GlyfsTer? | |
| ENST00000003084.11:c.2810dup MANE Select | ENSP00000003084.6:p.Val938GlyfsTer? | |
| ENST00000647720.1:c.460dup | ||
| ENST00000648260.1:c.1592dup | ENSP00000497957.1:p.Val532GlyfsTer? | |
| ENST00000649406.1:c.2627dup | ENSP00000497965.1:p.Val877GlyfsTer? | |
| ENST00000649781.1:c.2627dup | ENSP00000497203.1:p.Val877GlyfsTer? | |
| ENST00000003084.10:c.2810dup | ENSP00000003084.6:p.Val938GlyfsTer? | |
| ENST00000426809.5:c.2720dup | ENSP00000389119.1:p.Val908GlyfsTer? | |
| NM_000492.3:c.2810dup , LRG_663t1:c.2810dup | NP_000483.3:p.Val938GlyfsTer? | |
| XM_011515751.1:c.2900dup | XP_011514053.1:p.Val968GlyfsTer? | |
| XM_011515752.1:c.2900dup | XP_011514054.1:p.Val968GlyfsTer? | |
| XM_011515753.1:c.2567dup | XP_011514055.1:p.Val857GlyfsTer? | |
| XM_011515754.1:c.2567dup | XP_011514056.1:p.Val857GlyfsTer? | |
| NM_000492.4:c.2810dup MANE Select | NP_000483.3:p.Val938GlyfsTer? |