Linked Data
dbSNP Id:
rs397508709
gnomAD v2:
7-117307015-C-CGA
gnomAD v3:
7-117666961-C-CGA
gnomAD v4:
7-117666961-C-CGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117666965_117666966dup , CM000669.2:g.117666965_117666966dup | GRCh38 |
| NC_000007.13:g.117307019_117307020dup , CM000669.1:g.117307019_117307020dup | GRCh37 |
| NC_000007.12:g.117094255_117094256dup | NCBI36 |
| NG_016465.4:g.206182_206183dup , LRG_663:g.206182_206183dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*509_*510dup | ENSP00000497673.2:n.*509_*510dup | |
| ENST00000647978.2:c.*4014_*4015dup | ENSP00000497658.1:n.*4014_*4015dup | |
| ENST00000649781.2:c.4117_4118dup | ENSP00000497203.1:p.Ser1374GlyfsTer14 | |
| ENST00000685018.2:c.*513_*514dup | ENSP00000510194.2:n.*513_*514dup | |
| ENST00000687278.2:c.*896-637_*896-636dup | ENSP00000509593.2:n.*896-637_*896-636dup | |
| ENST00000699585.1:c.*769_*770dup | ENSP00000514456.1:n.*769_*770dup | |
| ENST00000699598.1:c.*6_*7dup | ENSP00000514467.1:n.*6_*7dup | |
| ENST00000699599.1:c.*513_*514dup | ENSP00000514468.1:n.*513_*514dup | |
| ENST00000699600.1:c.*904-637_*904-636dup | ENSP00000514469.1:n.*904-637_*904-636dup | |
| ENST00000699601.1:c.*2675_*2676dup | ENSP00000514470.1:n.*2675_*2676dup | |
| ENST00000699602.1:c.4294_4295dup | ENSP00000514471.1:p.Ser1433GlyfsTer14 | |
| ENST00000699604.1:c.*4124_*4125dup | ENSP00000514472.1:n.*4124_*4125dup | |
| ENST00000699605.1:c.3874_3875dup | ENSP00000514473.1:p.Ser1293GlyfsTer14 | |
| ENST00000699606.1:n.3811_3812dup | ||
| ENST00000685018.1:c.1164_1165dup | ENSP00000510194.1:n.1164_1165dup | |
| ENST00000687278.1:c.2030-637_2030-636dup | ENSP00000509593.1:n.2030-637_2030-636dup | |
| ENST00000689011.1:c.1142_1143dup | ||
| ENST00000003084.11:c.4300_4301dup MANE Select | ENSP00000003084.6:p.Ser1435GlyfsTer14 | |
| ENST00000647720.1:c.1750_1751dup | ||
| ENST00000649781.1:c.4117_4118dup | ENSP00000497203.1:p.Ser1374GlyfsTer14 | |
| ENST00000003084.10:c.4300_4301dup | ENSP00000003084.6:p.Ser1435GlyfsTer14 | |
| ENST00000426809.5:c.4210_4211dup | ENSP00000389119.1:p.Ser1405GlyfsTer14 | |
| ENST00000600166.1:c.368+1401_368+1402dup | ||
| NM_000492.3:c.4300_4301dup , LRG_663t1:c.4300_4301dup | NP_000483.3:p.Ser1435GlyfsTer14 | |
| XM_011515751.1:c.4390_4391dup | XP_011514053.1:p.Ser1465GlyfsTer14 | |
| XM_011515753.1:c.4057_4058dup | XP_011514055.1:p.Ser1354GlyfsTer14 | |
| XM_011515754.1:c.4057_4058dup | XP_011514056.1:p.Ser1354GlyfsTer14 | |
| NM_000492.4:c.4300_4301dup MANE Select | NP_000483.3:p.Ser1435GlyfsTer14 |