Linked Data
ClinVar Variation Id:
228393
ClinVar RCV Id:
RCV000214078
dbSNP Id:
rs876657720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336237dup , CM000675.2:g.23336237dup | GRCh38 |
| NC_000013.10:g.23910376dup , CM000675.1:g.23910376dup | GRCh37 |
| NC_000013.9:g.22808376dup | NCBI36 |
| NG_012342.1:g.102468dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17550dup | ENSP00000508399.1:n.2185+17550dup | |
| ENST00000682944.1:c.7668dup | ENSP00000507173.1:p.Glu2557ArgfsTer7 | |
| ENST00000683210.1:c.2185+17550dup | ENSP00000506739.1:n.2185+17550dup | |
| ENST00000683270.1:c.6445+1187dup | ENSP00000507624.1:n.6445+1187dup | |
| ENST00000683367.1:c.2177-6751dup | ENSP00000507780.1:n.2177-6751dup | |
| ENST00000683489.1:c.2291+5350dup | ENSP00000508403.1:n.2291+5350dup | |
| ENST00000683680.1:c.2318+5350dup | ENSP00000507223.1:n.2318+5350dup | |
| ENST00000684163.1:c.2204-6751dup | ENSP00000508262.1:n.2204-6751dup | |
| ENST00000684196.1:n.4543-6751dup | ||
| ENST00000684325.1:c.2186-14561dup | ENSP00000508121.1:n.2186-14561dup | |
| ENST00000684385.1:c.2221-6751dup | ENSP00000507855.1:n.2221-6751dup | |
| ENST00000684497.1:c.2186-13591dup | ENSP00000507057.1:n.2186-13591dup | |
| ENST00000382292.9:c.7641dup MANE Select | ENSP00000371729.3:p.Glu2548ArgfsTer7 | |
| ENST00000423156.2:c.2186-6751dup | ENSP00000390925.2:n.2186-6751dup | |
| ENST00000455470.6:c.2431+5210dup | ENSP00000406565.2:n.2431+5210dup | |
| ENST00000382292.7:c.7641dup | ENSP00000371729.3:p.Glu2548ArgfsTer7 | |
| ENST00000382298.7:c.7641dup | ENSP00000371735.3:p.Glu2548ArgfsTer7 | |
| ENST00000402364.1:c.5391dup | ENSP00000385844.1:p.Glu1798ArgfsTer7 | |
| ENST00000423156.1:c.1058-6751dup | ENSP00000390925.1:n.1058-6751dup | |
| ENST00000455470.5:c.2129+5210dup | ||
| NM_001278055.1:c.7200dup | NP_001264984.1:p.Glu2401ArgfsTer7 | |
| NM_014363.5:c.7641dup | NP_055178.3:p.Glu2548ArgfsTer7 | |
| XM_005266338.1:c.7668dup | XP_005266395.1:p.Glu2557ArgfsTer7 | |
| XM_011535038.1:c.7692dup | XP_011533340.1:p.Glu2565ArgfsTer7 | |
| XM_011535039.1:c.7659dup | XP_011533341.1:p.Glu2554ArgfsTer7 | |
| XM_005266338.2:c.7668dup | XP_005266395.1:p.Glu2557ArgfsTer7 | |
| XM_011535039.2:c.7659dup | XP_011533341.1:p.Glu2554ArgfsTer7 | |
| XM_017020539.1:c.7632dup | XP_016876028.1:p.Glu2545ArgfsTer7 | |
| XM_024449337.1:c.7668dup | XP_024305105.1:p.Glu2557ArgfsTer7 | |
| NM_014363.6:c.7641dup MANE Select | NP_055178.3:p.Glu2548ArgfsTer7 | |
| NM_001278055.2:c.7200dup | NP_001264984.1:p.Glu2401ArgfsTer7 |