Linked Data
ClinVar Variation Id:
557623
dbSNP Id:
rs1554390864
MyVariant Identifiers:
chr7:g.117602850_117602851dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117602850_117602851dup , CM000669.2:g.117602850_117602851dup | GRCh38 |
| NC_000007.13:g.117242904_117242905dup , CM000669.1:g.117242904_117242905dup | GRCh37 |
| NC_000007.12:g.117030140_117030141dup | NCBI36 |
| NG_016465.4:g.142067_142068dup , LRG_663:g.142067_142068dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2644_2645dup | ENSP00000497673.2:p.Trp882CysfsTer25 | |
| ENST00000647978.2:c.*2358_*2359dup | ENSP00000497658.1:n.*2358_*2359dup | |
| ENST00000649781.2:c.2461_2462dup | ENSP00000497203.1:p.Trp821CysfsTer25 | |
| ENST00000685018.2:c.2644_2645dup | ENSP00000510194.2:p.Trp882CysfsTer25 | |
| ENST00000687278.2:c.2644_2645dup | ENSP00000509593.2:p.Trp882CysfsTer25 | |
| ENST00000699585.1:c.2644_2645dup | ENSP00000514456.1:p.Trp882CysfsTer25 | |
| ENST00000699598.1:c.2644_2645dup | ENSP00000514467.1:p.Trp882CysfsTer25 | |
| ENST00000699599.1:c.2644_2645dup | ENSP00000514468.1:p.Trp882CysfsTer25 | |
| ENST00000699600.1:c.2644_2645dup | ENSP00000514469.1:p.Trp882CysfsTer25 | |
| ENST00000699601.1:c.*944_*945dup | ENSP00000514470.1:n.*944_*945dup | |
| ENST00000699602.1:c.2644_2645dup | ENSP00000514471.1:p.Trp882CysfsTer25 | |
| ENST00000699604.1:c.*2468_*2469dup | ENSP00000514472.1:n.*2468_*2469dup | |
| ENST00000699605.1:c.2218_2219dup | ENSP00000514473.1:p.Trp740CysfsTer25 | |
| ENST00000687278.1:c.235_236dup | ENSP00000509593.1:p.Trp79CysfsTer25 | |
| ENST00000003084.11:c.2644_2645dup MANE Select | ENSP00000003084.6:p.Trp882CysfsTer25 | |
| ENST00000647720.1:c.294_295dup | ||
| ENST00000648260.1:c.1426_1427dup | ENSP00000497957.1:p.Trp476CysfsTer25 | |
| ENST00000649406.1:c.2461_2462dup | ENSP00000497965.1:p.Trp821CysfsTer25 | |
| ENST00000649781.1:c.2461_2462dup | ENSP00000497203.1:p.Trp821CysfsTer25 | |
| ENST00000003084.10:c.2644_2645dup | ENSP00000003084.6:p.Trp882CysfsTer25 | |
| ENST00000426809.5:c.2554_2555dup | ENSP00000389119.1:p.Trp852CysfsTer25 | |
| NM_000492.3:c.2644_2645dup , LRG_663t1:c.2644_2645dup | NP_000483.3:p.Trp882CysfsTer25 | |
| XM_011515751.1:c.2734_2735dup | XP_011514053.1:p.Trp912CysfsTer25 | |
| XM_011515752.1:c.2734_2735dup | XP_011514054.1:p.Trp912CysfsTer25 | |
| XM_011515753.1:c.2401_2402dup | XP_011514055.1:p.Trp801CysfsTer25 | |
| XM_011515754.1:c.2401_2402dup | XP_011514056.1:p.Trp801CysfsTer25 | |
| NM_000492.4:c.2644_2645dup MANE Select | NP_000483.3:p.Trp882CysfsTer25 |