Linked Data
ClinVar Variation Id:
545031
dbSNP Id:
rs1216139602
gnomAD v2:
11-6635875-C-CT
gnomAD v3:
11-6614644-C-CT
gnomAD v4:
11-6614644-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614645dup , CM000673.2:g.6614645dup | GRCh38 |
| NC_000011.9:g.6635876dup , CM000673.1:g.6635876dup | GRCh37 |
| NC_000011.8:g.6592452dup | NCBI36 |
| NG_008653.1:g.9817dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1479dup | ENSP00000507321.1:p.Glu494ArgfsTer? | |
| ENST00000299427.12:c.1593dup MANE Select | ENSP00000299427.6:p.Glu532ArgfsTer? | |
| ENST00000524611.2:n.632dup | ||
| ENST00000524924.2:n.713dup | ||
| ENST00000533371.6:c.864dup | ENSP00000437066.1:p.Glu289ArgfsTer? | |
| ENST00000642892.1:c.864dup | ENSP00000494165.1:p.Glu289ArgfsTer? | |
| ENST00000643342.1:c.666dup | ||
| ENST00000643439.1:c.*1333dup | ENSP00000495849.1:n.*1333dup | |
| ENST00000643479.1:n.1779dup | ||
| ENST00000643516.1:c.1102dup | ||
| ENST00000644218.1:c.1404dup | ENSP00000493574.1:p.Glu469ArgfsTer? | |
| ENST00000644683.1:c.*1046dup | ENSP00000494085.1:n.*1046dup | |
| ENST00000644810.1:c.1314dup | ENSP00000495895.1:p.Glu439ArgfsTer? | |
| ENST00000644831.1:n.1769dup | ||
| ENST00000644933.1:c.*459dup | ENSP00000496133.1:n.*459dup | |
| ENST00000645285.1:c.*459dup | ENSP00000495058.1:n.*459dup | |
| ENST00000645331.1:n.2798dup | ||
| ENST00000645620.1:c.864dup | ENSP00000493657.1:p.Glu289ArgfsTer? | |
| ENST00000646691.1:n.1480dup | ||
| ENST00000646777.1:n.1926dup | ||
| ENST00000647016.1:n.2073dup | ||
| ENST00000647152.1:c.864dup | ENSP00000495893.1:p.Glu289ArgfsTer? | |
| ENST00000647209.1:c.*1462dup | ENSP00000495558.1:n.*1462dup | |
| ENST00000647346.1:n.2613dup | ||
| ENST00000299427.10:c.1593dup | ENSP00000299427.6:p.Glu532ArgfsTer? | |
| ENST00000533371.5:c.864dup | ENSP00000437066.1:p.Glu289ArgfsTer? | |
| ENST00000611494.4:c.1593dup | ENSP00000484546.1:p.Glu532ArgfsTer? | |
| NM_000391.3:c.1593dup | NP_000382.3:p.Glu532ArgfsTer? | |
| NM_000391.4:c.1593dup MANE Select | NP_000382.3:p.Glu532ArgfsTer? |