Linked Data
ClinVar Variation Id:
35879
ClinVar RCV Id:
RCV000029534
dbSNP Id:
rs193922523
MyVariant Identifiers:
chr7:g.117292979_117292980insAGGG (hg19)
chr7:g.117652925_117652926insAGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652925_117652926insAGGG , CM000669.2:g.117652925_117652926insAGGG | GRCh38 |
| NC_000007.13:g.117292979_117292980insAGGG , CM000669.1:g.117292979_117292980insAGGG | GRCh37 |
| NC_000007.12:g.117080215_117080216insAGGG | NCBI36 |
| NG_016465.4:g.192142_192143insAGGG , LRG_663:g.192142_192143insAGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*166_*167insAGGG | ENSP00000497673.2:n.*166_*167insAGGG | |
| ENST00000647978.2:c.*3671_*3672insAGGG | ENSP00000497658.1:n.*3671_*3672insAGGG | |
| ENST00000649781.2:c.3774_3775insAGGG | ENSP00000497203.1:p.Asp1259ArgfsTer3 | |
| ENST00000685018.2:c.*170_*171insAGGG | ENSP00000510194.2:n.*170_*171insAGGG | |
| ENST00000687278.2:c.*610_*611insAGGG | ENSP00000509593.2:n.*610_*611insAGGG | |
| ENST00000699585.1:c.*166_*167insAGGG | ENSP00000514456.1:n.*166_*167insAGGG | |
| ENST00000699598.1:c.3957_3958insAGGG | ENSP00000514467.1:p.Asp1320ArgfsTer3 | |
| ENST00000699599.1:c.*170_*171insAGGG | ENSP00000514468.1:n.*170_*171insAGGG | |
| ENST00000699600.1:c.*618_*619insAGGG | ENSP00000514469.1:n.*618_*619insAGGG | |
| ENST00000699601.1:c.*2332_*2333insAGGG | ENSP00000514470.1:n.*2332_*2333insAGGG | |
| ENST00000699602.1:c.3951_3952insAGGG | ENSP00000514471.1:p.Asp1318ArgfsTer3 | |
| ENST00000699604.1:c.*3781_*3782insAGGG | ENSP00000514472.1:n.*3781_*3782insAGGG | |
| ENST00000699605.1:c.3531_3532insAGGG | ENSP00000514473.1:p.Asp1178ArgfsTer3 | |
| ENST00000699606.1:n.2125_2126insAGGG | ||
| ENST00000685018.1:c.821_822insAGGG | ENSP00000510194.1:n.821_822insAGGG | |
| ENST00000687278.1:c.1744_1745insAGGG | ENSP00000509593.1:n.1744_1745insAGGG | |
| ENST00000689011.1:c.539_540insAGGG | ||
| ENST00000003084.11:c.3957_3958insAGGG MANE Select | ENSP00000003084.6:p.Asp1320ArgfsTer3 | |
| ENST00000647720.1:c.1407_1408insAGGG | ||
| ENST00000649781.1:c.3774_3775insAGGG | ENSP00000497203.1:p.Asp1259ArgfsTer3 | |
| ENST00000003084.10:c.3957_3958insAGGG | ENSP00000003084.6:p.Asp1320ArgfsTer3 | |
| ENST00000426809.5:c.3867_3868insAGGG | ENSP00000389119.1:p.Asp1290ArgfsTer3 | |
| ENST00000600166.1:c.83_84insAGGG | ||
| NM_000492.3:c.3957_3958insAGGG , LRG_663t1:c.3957_3958insAGGG | NP_000483.3:p.Asp1320ArgfsTer3 | |
| XM_011515751.1:c.4047_4048insAGGG | XP_011514053.1:p.Asp1350ArgfsTer3 | |
| XM_011515752.1:c.4047_4048insAGGG | XP_011514054.1:p.Asp1350ArgfsTer3 | |
| XM_011515753.1:c.3714_3715insAGGG | XP_011514055.1:p.Asp1239ArgfsTer3 | |
| XM_011515754.1:c.3714_3715insAGGG | XP_011514056.1:p.Asp1239ArgfsTer3 | |
| NM_000492.4:c.3957_3958insAGGG MANE Select | NP_000483.3:p.Asp1320ArgfsTer3 |