Canonical Allele Identifier: CA16621081

Gene: CHEK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28725244del , CM000684.2:g.28725244del	GRCh38
NC_000022.10:g.29121232del , CM000684.1:g.29121232del	GRCh37
NC_000022.9:g.27451232del	NCBI36
NG_008150.1:g.21593del
NG_008150.2:g.21625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.444+1del
ENST00000454252.2:c.*424+1del
ENST00000711048.1:c.444+1del
ENST00000398017.3:c.444+1del
ENST00000402731.6:c.444+1del
ENST00000404276.6:c.444+1del
ENST00000425190.7:c.-220+1del
ENST00000649563.1:c.-71-5757del	ENSP00000496928.1:n.-71-5757del
ENST00000650233.1:c.444+1del
ENST00000650281.1:c.444+1del
ENST00000328354.10:c.444+1del
ENST00000348295.7:c.444+1del
ENST00000382565.5:c.444+1del
ENST00000382580.6:c.573+1del
ENST00000398017.2:c.474+1del
ENST00000402731.5:c.444+1del
ENST00000403642.5:c.320-5757del	ENSP00000384919.1:n.320-5757del
ENST00000404276.5:c.444+1del
ENST00000405598.5:c.444+1del
ENST00000416671.5:c.444+1del
ENST00000417588.5:c.444+1del
ENST00000425190.6:c.-220+1del
ENST00000433028.6:c.444+1del
ENST00000433728.5:c.444+1del
ENST00000439200.5:c.537+1del
ENST00000439346.5:c.6+1del
ENST00000447421.5:c.444+1del
ENST00000448511.5:c.444+1del
ENST00000454252.1:c.562+1del
NM_001005735.1:c.573+1del
NM_001257387.1:c.-334+1del
NM_007194.3:c.444+1del
NM_145862.2:c.444+1del
XM_011529839.1:c.603+1del
XM_011529840.1:c.603+1del
XM_011529841.1:c.573+1del
XM_011529842.1:c.474+1del
XM_011529843.1:c.444+1del
XM_011529844.1:c.603+1del
XM_011529845.1:c.-220+1del
XR_937805.1:n.665+1del
XR_937806.1:n.660+1del
XR_937807.1:n.660+1del
NM_001349956.1:c.444+1del
NM_007194.4:c.444+1del
XM_011529839.2:c.603+1del
XM_011529840.3:c.603+1del
XM_011529842.2:c.474+1del
XM_011529844.2:c.603+1del
XM_011529845.2:c.-220+1del
XM_017028560.1:c.567+1del
XM_024452148.1:c.474+1del
XM_024452149.1:c.474+1del
XR_937805.2:n.676+1del
XR_937806.2:n.676+1del
XR_937807.2:n.676+1del
NM_001005735.2:c.573+1del
NM_001257387.2:c.-334+1del
NM_001349956.2:c.444+1del