Linked Data
dbSNP Id:
rs1189165983
MyVariant Identifiers:
chr22:g.38694832_38694833insGCCCT (hg19)
chr22:g.38298827_38298828insGCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38298831_38298835dup , CM000684.2:g.38298831_38298835dup | GRCh38 |
| NC_000022.10:g.38694836_38694840dup , CM000684.1:g.38694836_38694840dup | GRCh37 |
| NC_000022.9:g.37024782_37024786dup | NCBI36 |
| NG_016707.1:g.24253_24257dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396832.6:c.839_843dup (CSNK1E) MANE Select | ENSP00000380044.1:p.Phe282ArgfsTer14 | |
| ENST00000400206.7:c.839_843dup (TPTEP2-CSNK1E) | ENSP00000383067.2:p.Phe282ArgfsTer14 | |
| ENST00000612795.2:c.633_637dup (CSNK1E) | ||
| ENST00000359867.7:c.839_843dup (CSNK1E) | ENSP00000352929.3:p.Phe282ArgfsTer14 | |
| ENST00000396832.5:c.839_843dup (CSNK1E) | ENSP00000380044.1:p.Phe282ArgfsTer14 | |
| ENST00000400206.6:c.839_843dup (CSNK1E) | ENSP00000383067.2:p.Phe282ArgfsTer14 | |
| ENST00000403904.5:c.839_843dup (CSNK1E) | ENSP00000384074.1:p.Phe282ArgfsTer14 | |
| ENST00000405675.7:c.839_843dup (CSNK1E) | ENSP00000384426.3:p.Phe282ArgfsTer14 | |
| ENST00000413574.6:c.839_843dup (CSNK1E) | ENSP00000407235.2:p.Phe282ArgfsTer14 | |
| ENST00000431611.5:c.314_318dup (CSNK1E) | ||
| ENST00000431632.5:c.21_25dup (CSNK1E) | ||
| ENST00000442216.1:c.234_238dup (CSNK1E) | ||
| ENST00000451964.5:c.652_656dup (CSNK1E) | ||
| ENST00000498529.5:n.274_278dup (CSNK1E) | ||
| ENST00000612795.1:n.633_637dup (CSNK1E) | ||
| NM_001289912.1:c.839_843dup (TPTEP2-CSNK1E) | NP_001276841.1:p.Phe282ArgfsTer14 | |
| NM_001894.4:c.839_843dup (CSNK1E) | NP_001885.1:p.Phe282ArgfsTer14 | |
| NM_152221.2:c.839_843dup (CSNK1E) | NP_689407.1:p.Phe282ArgfsTer14 | |
| NM_152221.3:c.839_843dup (CSNK1E) MANE Select | NP_689407.1:p.Phe282ArgfsTer14 | |
| NM_001289912.2:c.839_843dup (TPTEP2-CSNK1E) | NP_001276841.1:p.Phe282ArgfsTer14 | |
| NM_001894.5:c.839_843dup (CSNK1E) | NP_001885.1:p.Phe282ArgfsTer14 |