Linked Data
ClinVar Variation Id:
550623
ClinVar RCV Id:
RCV000665414
dbSNP Id:
rs1554902043
MyVariant Identifiers:
chr11:g.6617387dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617387dup , CM000673.2:g.6617387dup | GRCh38 |
| NC_000011.9:g.6638618dup , CM000673.1:g.6638618dup | GRCh37 |
| NC_000011.8:g.6595194dup | NCBI36 |
| NG_008653.1:g.7075dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.308dup | ENSP00000507321.1:p.Tyr103Ter | |
| ENST00000299427.12:c.422dup MANE Select | ENSP00000299427.6:p.Tyr141Ter | |
| ENST00000428886.7:n.510dup | ||
| ENST00000436873.7:c.226dup | ||
| ENST00000524788.2:n.1434dup | ||
| ENST00000524903.2:n.1550dup | ||
| ENST00000528571.6:c.*162dup | ENSP00000434647.1:n.*162dup | |
| ENST00000528807.2:n.78dup | ||
| ENST00000530040.2:n.451dup | ||
| ENST00000533371.6:c.-308dup | ENSP00000437066.1:n.-308dup | |
| ENST00000534644.6:n.423dup | ||
| ENST00000642892.1:c.-255dup | ENSP00000494165.1:n.-255dup | |
| ENST00000643439.1:c.*162dup | ENSP00000495849.1:n.*162dup | |
| ENST00000643479.1:n.451dup | ||
| ENST00000643516.1:c.309dup | ||
| ENST00000644151.1:n.1714dup | ||
| ENST00000644218.1:c.422dup | ENSP00000493574.1:p.Tyr141Ter | |
| ENST00000644683.1:c.422dup | ENSP00000494085.1:p.Tyr141Ter | |
| ENST00000644810.1:c.230-234dup | ENSP00000495895.1:n.230-234dup | |
| ENST00000644831.1:n.451dup | ||
| ENST00000644933.1:c.-308dup | ENSP00000496133.1:n.-308dup | |
| ENST00000645020.1:n.1450dup | ||
| ENST00000645285.1:c.-308dup | ENSP00000495058.1:n.-308dup | |
| ENST00000645331.1:n.641dup | ||
| ENST00000645620.1:c.-250dup | ENSP00000493657.1:n.-250dup | |
| ENST00000646777.1:n.451dup | ||
| ENST00000647016.1:n.755dup | ||
| ENST00000647152.1:c.-308dup | ENSP00000495893.1:n.-308dup | |
| ENST00000647209.1:c.*291dup | ENSP00000495558.1:n.*291dup | |
| ENST00000647346.1:n.1442dup | ||
| ENST00000299427.10:c.422dup | ENSP00000299427.6:p.Tyr141Ter | |
| ENST00000428886.6:n.444dup | ||
| ENST00000436873.6:c.422dup | ENSP00000398136.2:p.Tyr141Ter | |
| ENST00000528571.5:c.*162dup | ENSP00000434647.1:n.*162dup | |
| ENST00000530040.1:n.534dup | ||
| ENST00000533371.5:c.-308dup | ENSP00000437066.1:n.-308dup | |
| ENST00000534644.5:n.407dup | ||
| ENST00000611494.4:c.422dup | ENSP00000484546.1:p.Tyr141Ter | |
| NM_000391.3:c.422dup | NP_000382.3:p.Tyr141Ter | |
| NM_000391.4:c.422dup MANE Select | NP_000382.3:p.Tyr141Ter |