Canonical Allele Identifier: CA752988846

Gene: CSNK1E TPTEP2-CSNK1E

Linked Data

• dbSNP Id: rs1280939918
• gnomAD v3: 22-38298723-CCT-C
• gnomAD v4: 22-38298723-CCT-C
• MyVariant Identifiers: chr22:g.38694729_38694730del (hg19) ; chr22:g.38298724_38298725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38298726_38298727del , CM000684.2:g.38298726_38298727del	GRCh38
NC_000022.10:g.38694731_38694732del , CM000684.1:g.38694731_38694732del	GRCh37
NC_000022.9:g.37024677_37024678del	NCBI36
NG_016707.1:g.24360_24361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396832.6:c.885+61_885+62del (CSNK1E) MANE Select	ENSP00000380044.1:n.885+61_885+62del
ENST00000400206.7:c.885+61_885+62del (TPTEP2-CSNK1E)	ENSP00000383067.2:n.885+61_885+62del
ENST00000612795.2:c.740_741del (CSNK1E)
ENST00000359867.7:c.885+61_885+62del (CSNK1E)	ENSP00000352929.3:n.885+61_885+62del
ENST00000396832.5:c.885+61_885+62del (CSNK1E)	ENSP00000380044.1:n.885+61_885+62del
ENST00000400206.6:c.885+61_885+62del (CSNK1E)	ENSP00000383067.2:n.885+61_885+62del
ENST00000403904.5:c.885+61_885+62del (CSNK1E)	ENSP00000384074.1:n.885+61_885+62del
ENST00000405675.7:c.885+61_885+62del (CSNK1E)	ENSP00000384426.3:n.885+61_885+62del
ENST00000413574.6:c.885+61_885+62del (CSNK1E)	ENSP00000407235.2:n.885+61_885+62del
ENST00000431611.5:c.360+61_360+62del (CSNK1E)
ENST00000431632.5:c.67+61_67+62del (CSNK1E)
ENST00000442216.1:c.280+61_280+62del (CSNK1E)
ENST00000451964.5:c.698+61_698+62del (CSNK1E)
ENST00000498529.5:n.320+61_320+62del (CSNK1E)
ENST00000612795.1:n.740_741del (CSNK1E)
NM_001289912.1:c.885+61_885+62del (TPTEP2-CSNK1E)	NP_001276841.1:n.885+61_885+62del
NM_001894.4:c.885+61_885+62del (CSNK1E)	NP_001885.1:n.885+61_885+62del
NM_152221.2:c.885+61_885+62del (CSNK1E)	NP_689407.1:n.885+61_885+62del
NM_152221.3:c.885+61_885+62del (CSNK1E) MANE Select	NP_689407.1:n.885+61_885+62del
NM_001289912.2:c.885+61_885+62del (TPTEP2-CSNK1E)	NP_001276841.1:n.885+61_885+62del
NM_001894.5:c.885+61_885+62del (CSNK1E)	NP_001885.1:n.885+61_885+62del