Linked Data
ClinVar Variation Id:
551264
ClinVar RCV Id:
RCV000666274
dbSNP Id:
rs1554391491
MyVariant Identifiers:
chr7:g.117606751dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117606751dup , CM000669.2:g.117606751dup | GRCh38 |
| NC_000007.13:g.117246805dup , CM000669.1:g.117246805dup | GRCh37 |
| NC_000007.12:g.117034041dup | NCBI36 |
| NG_016465.4:g.145968dup , LRG_663:g.145968dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2986dup | ENSP00000497673.2:p.Gln996ProfsTer? | |
| ENST00000647978.2:c.*2700dup | ENSP00000497658.1:n.*2700dup | |
| ENST00000649781.2:c.2803dup | ENSP00000497203.1:p.Gln935ProfsTer? | |
| ENST00000685018.2:c.2986dup | ENSP00000510194.2:p.Gln996ProfsTer? | |
| ENST00000687278.2:c.2986dup | ENSP00000509593.2:p.Gln996ProfsTer? | |
| ENST00000699585.1:c.2986dup | ENSP00000514456.1:p.Gln996ProfsTer? | |
| ENST00000699598.1:c.2986dup | ENSP00000514467.1:p.Gln996ProfsTer? | |
| ENST00000699599.1:c.2986dup | ENSP00000514468.1:p.Gln996ProfsTer? | |
| ENST00000699600.1:c.2986dup | ENSP00000514469.1:p.Gln996ProfsTer? | |
| ENST00000699601.1:c.*1286dup | ENSP00000514470.1:n.*1286dup | |
| ENST00000699602.1:c.2986dup | ENSP00000514471.1:p.Gln996ProfsTer? | |
| ENST00000699604.1:c.*2810dup | ENSP00000514472.1:n.*2810dup | |
| ENST00000699605.1:c.2560dup | ENSP00000514473.1:p.Gln854ProfsTer? | |
| ENST00000687278.1:c.577dup | ENSP00000509593.1:p.Gln193ProfsTer? | |
| ENST00000003084.11:c.2986dup MANE Select | ENSP00000003084.6:p.Gln996ProfsTer? | |
| ENST00000647720.1:c.636dup | ||
| ENST00000648260.1:c.1768dup | ENSP00000497957.1:p.Gln590ProfsTer? | |
| ENST00000649406.1:c.2803dup | ENSP00000497965.1:p.Gln935ProfsTer? | |
| ENST00000649781.1:c.2803dup | ENSP00000497203.1:p.Gln935ProfsTer? | |
| ENST00000003084.10:c.2986dup | ENSP00000003084.6:p.Gln996ProfsTer? | |
| ENST00000426809.5:c.2896dup | ENSP00000389119.1:p.Gln966ProfsTer? | |
| NM_000492.3:c.2986dup , LRG_663t1:c.2986dup | NP_000483.3:p.Gln996ProfsTer? | |
| XM_011515751.1:c.3076dup | XP_011514053.1:p.Gln1026ProfsTer? | |
| XM_011515752.1:c.3076dup | XP_011514054.1:p.Gln1026ProfsTer? | |
| XM_011515753.1:c.2743dup | XP_011514055.1:p.Gln915ProfsTer? | |
| XM_011515754.1:c.2743dup | XP_011514056.1:p.Gln915ProfsTer? | |
| NM_000492.4:c.2986dup MANE Select | NP_000483.3:p.Gln996ProfsTer? |