Linked Data
ClinVar Variation Id:
53903
dbSNP Id:
rs397508685
gnomAD v4:
7-117665466-C-CA
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665469dup , CM000669.2:g.117665469dup | GRCh38 |
| NC_000007.13:g.117305523dup , CM000669.1:g.117305523dup | GRCh37 |
| NC_000007.12:g.117092759dup | NCBI36 |
| NG_016465.4:g.204686dup , LRG_663:g.204686dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*356dup | ENSP00000497673.2:n.*356dup | |
| ENST00000647978.2:c.*3861dup | ENSP00000497658.1:n.*3861dup | |
| ENST00000649781.2:c.3964dup | ENSP00000497203.1:p.Ile1322AsnfsTer3 | |
| ENST00000685018.2:c.*360dup | ENSP00000510194.2:n.*360dup | |
| ENST00000687278.2:c.*800dup | ENSP00000509593.2:n.*800dup | |
| ENST00000699585.1:c.*356dup | ENSP00000514456.1:n.*356dup | |
| ENST00000699598.1:c.4147dup | ENSP00000514467.1:p.Ile1383AsnfsTer3 | |
| ENST00000699599.1:c.*360dup | ENSP00000514468.1:n.*360dup | |
| ENST00000699600.1:c.*808dup | ENSP00000514469.1:n.*808dup | |
| ENST00000699601.1:c.*2522dup | ENSP00000514470.1:n.*2522dup | |
| ENST00000699602.1:c.4141dup | ENSP00000514471.1:p.Ile1381AsnfsTer3 | |
| ENST00000699604.1:c.*3971dup | ENSP00000514472.1:n.*3971dup | |
| ENST00000699605.1:c.3721dup | ENSP00000514473.1:p.Ile1241AsnfsTer3 | |
| ENST00000699606.1:n.2315dup | ||
| ENST00000685018.1:c.1011dup | ENSP00000510194.1:n.1011dup | |
| ENST00000687278.1:c.1934dup | ENSP00000509593.1:n.1934dup | |
| ENST00000689011.1:c.729dup | ||
| ENST00000003084.11:c.4147dup MANE Select | ENSP00000003084.6:p.Ile1383AsnfsTer3 | |
| ENST00000647720.1:c.1597dup | ||
| ENST00000649781.1:c.3964dup | ENSP00000497203.1:p.Ile1322AsnfsTer3 | |
| ENST00000003084.10:c.4147dup | ENSP00000003084.6:p.Ile1383AsnfsTer3 | |
| ENST00000426809.5:c.4057dup | ENSP00000389119.1:p.Ile1353AsnfsTer3 | |
| ENST00000600166.1:c.273dup | ||
| NM_000492.3:c.4147dup , LRG_663t1:c.4147dup | NP_000483.3:p.Ile1383AsnfsTer3 | |
| XM_011515751.1:c.4237dup | XP_011514053.1:p.Ile1413AsnfsTer3 | |
| XM_011515752.1:c.4237dup | XP_011514054.1:p.Ile1413AsnfsTer3 | |
| XM_011515753.1:c.3904dup | XP_011514055.1:p.Ile1302AsnfsTer3 | |
| XM_011515754.1:c.3904dup | XP_011514056.1:p.Ile1302AsnfsTer3 | |
| NM_000492.4:c.4147dup MANE Select | NP_000483.3:p.Ile1383AsnfsTer3 |