Linked Data
ClinVar Variation Id:
554563
dbSNP Id:
rs1554902085
MyVariant Identifiers:
chr11:g.6617649dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617651dup , CM000673.2:g.6617651dup | GRCh38 |
| NC_000011.9:g.6638882dup , CM000673.1:g.6638882dup | GRCh37 |
| NC_000011.8:g.6595458dup | NCBI36 |
| NG_008653.1:g.6813dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.243dup | ENSP00000507321.1:p.Leu82SerfsTer18 | |
| ENST00000299427.12:c.357dup MANE Select | ENSP00000299427.6:p.Leu120SerfsTer18 | |
| ENST00000428886.7:n.445dup | ||
| ENST00000436873.7:c.161dup | ||
| ENST00000524788.2:n.1369dup | ||
| ENST00000524903.2:n.1485dup | ||
| ENST00000528571.6:c.*97dup | ENSP00000434647.1:n.*97dup | |
| ENST00000530040.2:n.386dup | ||
| ENST00000533371.6:c.-373dup | ENSP00000437066.1:n.-373dup | |
| ENST00000534644.6:n.358dup | ||
| ENST00000642892.1:c.-320dup | ENSP00000494165.1:n.-320dup | |
| ENST00000643439.1:c.*97dup | ENSP00000495849.1:n.*97dup | |
| ENST00000643479.1:n.386dup | ||
| ENST00000643516.1:c.244dup | ||
| ENST00000644151.1:n.1649dup | ||
| ENST00000644218.1:c.357dup | ENSP00000493574.1:p.Leu120SerfsTer18 | |
| ENST00000644683.1:c.357dup | ENSP00000494085.1:p.Leu120SerfsTer18 | |
| ENST00000644810.1:c.230-496dup | ENSP00000495895.1:n.230-496dup | |
| ENST00000644831.1:n.386dup | ||
| ENST00000644933.1:c.-373dup | ENSP00000496133.1:n.-373dup | |
| ENST00000645020.1:n.1385dup | ||
| ENST00000645285.1:c.-373dup | ENSP00000495058.1:n.-373dup | |
| ENST00000645331.1:n.379dup | ||
| ENST00000645620.1:c.-315dup | ENSP00000493657.1:n.-315dup | |
| ENST00000646777.1:n.386dup | ||
| ENST00000647016.1:n.690dup | ||
| ENST00000647152.1:c.-373dup | ENSP00000495893.1:n.-373dup | |
| ENST00000647209.1:c.*226dup | ENSP00000495558.1:n.*226dup | |
| ENST00000647346.1:n.1377dup | ||
| ENST00000299427.10:c.357dup | ENSP00000299427.6:p.Leu120SerfsTer18 | |
| ENST00000428886.6:n.379dup | ||
| ENST00000436873.6:c.357dup | ENSP00000398136.2:p.Leu120SerfsTer18 | |
| ENST00000528571.5:c.*97dup | ENSP00000434647.1:n.*97dup | |
| ENST00000530040.1:n.469dup | ||
| ENST00000533371.5:c.-373dup | ENSP00000437066.1:n.-373dup | |
| ENST00000534644.5:n.342dup | ||
| ENST00000611494.4:c.357dup | ENSP00000484546.1:p.Leu120SerfsTer18 | |
| NM_000391.3:c.357dup | NP_000382.3:p.Leu120SerfsTer18 | |
| NM_000391.4:c.357dup MANE Select | NP_000382.3:p.Leu120SerfsTer18 |