Linked Data
ClinVar Variation Id:
487402
dbSNP Id:
rs397508669
gnomAD v4:
7-117664809-G-GT
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664810dup , CM000669.2:g.117664810dup | GRCh38 |
| NC_000007.13:g.117304864dup , CM000669.1:g.117304864dup | GRCh37 |
| NC_000007.12:g.117092100dup | NCBI36 |
| NG_016465.4:g.204027dup , LRG_663:g.204027dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*295dup | ENSP00000497673.2:n.*295dup | |
| ENST00000647978.2:c.*3800dup | ENSP00000497658.1:n.*3800dup | |
| ENST00000649781.2:c.3903dup | ENSP00000497203.1:p.Lys1302Ter | |
| ENST00000685018.2:c.*299dup | ENSP00000510194.2:n.*299dup | |
| ENST00000687278.2:c.*739dup | ENSP00000509593.2:n.*739dup | |
| ENST00000699585.1:c.*295dup | ENSP00000514456.1:n.*295dup | |
| ENST00000699598.1:c.4086dup | ENSP00000514467.1:p.Lys1363Ter | |
| ENST00000699599.1:c.*299dup | ENSP00000514468.1:n.*299dup | |
| ENST00000699600.1:c.*747dup | ENSP00000514469.1:n.*747dup | |
| ENST00000699601.1:c.*2461dup | ENSP00000514470.1:n.*2461dup | |
| ENST00000699602.1:c.4080dup | ENSP00000514471.1:p.Lys1361Ter | |
| ENST00000699604.1:c.*3910dup | ENSP00000514472.1:n.*3910dup | |
| ENST00000699605.1:c.3660dup | ENSP00000514473.1:p.Lys1221Ter | |
| ENST00000699606.1:n.2254dup | ||
| ENST00000685018.1:c.950dup | ENSP00000510194.1:n.950dup | |
| ENST00000687278.1:c.1873dup | ENSP00000509593.1:n.1873dup | |
| ENST00000689011.1:c.668dup | ||
| ENST00000003084.11:c.4086dup MANE Select | ENSP00000003084.6:p.Lys1363Ter | |
| ENST00000647720.1:c.1536dup | ||
| ENST00000649781.1:c.3903dup | ENSP00000497203.1:p.Lys1302Ter | |
| ENST00000003084.10:c.4086dup | ENSP00000003084.6:p.Lys1363Ter | |
| ENST00000426809.5:c.3996dup | ENSP00000389119.1:p.Lys1333Ter | |
| ENST00000600166.1:c.212dup | ||
| NM_000492.3:c.4086dup , LRG_663t1:c.4086dup | NP_000483.3:p.Lys1363Ter | |
| XM_011515751.1:c.4176dup | XP_011514053.1:p.Lys1393Ter | |
| XM_011515752.1:c.4176dup | XP_011514054.1:p.Lys1393Ter | |
| XM_011515753.1:c.3843dup | XP_011514055.1:p.Lys1282Ter | |
| XM_011515754.1:c.3843dup | XP_011514056.1:p.Lys1282Ter | |
| NM_000492.4:c.4086dup MANE Select | NP_000483.3:p.Lys1363Ter |