Linked Data
ClinVar Variation Id:
53430
dbSNP Id:
rs397508334
MyVariant Identifiers:
chr7:g.117232266dupC (hg19)
chr7:g.117232265_117232266insC (hg19)
chr7:g.117592212dupC (hg38)
chr7:g.117592211_117592212insC (hg38)
PubMed:
PMID:10439967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592212dup , CM000669.2:g.117592212dup | GRCh38 |
| NC_000007.13:g.117232266dup , CM000669.1:g.117232266dup | GRCh37 |
| NC_000007.12:g.117019502dup | NCBI36 |
| NG_016465.4:g.131429dup , LRG_663:g.131429dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2045dup | ENSP00000497673.2:p.Gln685ThrfsTer4 | |
| ENST00000647978.2:c.*1759dup | ENSP00000497658.1:n.*1759dup | |
| ENST00000649781.2:c.1862dup | ENSP00000497203.1:p.Gln624ThrfsTer4 | |
| ENST00000685018.2:c.2045dup | ENSP00000510194.2:p.Gln685ThrfsTer4 | |
| ENST00000687278.2:c.2045dup | ENSP00000509593.2:p.Gln685ThrfsTer4 | |
| ENST00000699585.1:c.2045dup | ENSP00000514456.1:p.Gln685ThrfsTer4 | |
| ENST00000699598.1:c.2045dup | ENSP00000514467.1:p.Gln685ThrfsTer4 | |
| ENST00000699599.1:c.2045dup | ENSP00000514468.1:p.Gln685ThrfsTer4 | |
| ENST00000699600.1:c.2045dup | ENSP00000514469.1:p.Gln685ThrfsTer4 | |
| ENST00000699601.1:c.*345dup | ENSP00000514470.1:n.*345dup | |
| ENST00000699602.1:c.2045dup | ENSP00000514471.1:p.Gln685ThrfsTer4 | |
| ENST00000699604.1:c.*1869dup | ENSP00000514472.1:n.*1869dup | |
| ENST00000699605.1:c.1619dup | ENSP00000514473.1:p.Gln543ThrfsTer4 | |
| ENST00000003084.11:c.2045dup MANE Select | ENSP00000003084.6:p.Gln685ThrfsTer4 | |
| ENST00000647978.1:c.*1759dup | ENSP00000497658.1:n.*1759dup | |
| ENST00000648260.1:c.1402-10614dup | ENSP00000497957.1:n.1402-10614dup | |
| ENST00000649406.1:c.1862dup | ENSP00000497965.1:p.Gln624ThrfsTer4 | |
| ENST00000649781.1:c.1862dup | ENSP00000497203.1:p.Gln624ThrfsTer4 | |
| ENST00000003084.10:c.2045dup | ENSP00000003084.6:p.Gln685ThrfsTer4 | |
| ENST00000426809.5:c.1955dup | ENSP00000389119.1:p.Gln655ThrfsTer4 | |
| NM_000492.3:c.2045dup , LRG_663t1:c.2045dup | NP_000483.3:p.Gln685ThrfsTer4 | |
| XM_011515751.1:c.2135dup | XP_011514053.1:p.Gln715ThrfsTer4 | |
| XM_011515752.1:c.2135dup | XP_011514054.1:p.Gln715ThrfsTer4 | |
| XM_011515753.1:c.1802dup | XP_011514055.1:p.Gln604ThrfsTer4 | |
| XM_011515754.1:c.1802dup | XP_011514056.1:p.Gln604ThrfsTer4 | |
| NM_000492.4:c.2045dup MANE Select | NP_000483.3:p.Gln685ThrfsTer4 |