Canonical Allele Identifier: CA2655953361

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28699879-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699880del , CM000684.2:g.28699880del	GRCh38
NC_000022.10:g.29095868del , CM000684.1:g.29095868del	GRCh37
NC_000022.9:g.27425868del	NCBI36
NG_008150.1:g.46955del
NG_008150.2:g.46987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.875del	ENSP00000396903.2:n.875del
ENST00000711048.1:c.966del	ENSP00000518557.1:p.Thr323ProfsTer?
ENST00000402731.6:c.765del	ENSP00000384835.2:p.Thr256ProfsTer26
ENST00000404276.6:c.966del MANE Select	ENSP00000385747.1:p.Thr323ProfsTer26
ENST00000425190.7:c.303del	ENSP00000390244.2:p.Thr102ProfsTer26
ENST00000464581.6:c.306del	ENSP00000483777.2:p.Thr103ProfsTer26
ENST00000648295.1:n.518del
ENST00000649563.1:c.303del	ENSP00000496928.1:p.Thr102ProfsTer26
ENST00000650281.1:c.966del	ENSP00000497000.1:p.Thr323ProfsTer26
ENST00000328354.10:c.966del	ENSP00000329178.6:p.Thr323ProfsTer26
ENST00000348295.7:c.966del	ENSP00000329012.5:p.Thr323ProfsTer?
ENST00000382580.6:c.1095del	ENSP00000372023.2:p.Thr366ProfsTer26
ENST00000402731.5:c.966del	ENSP00000384835.1:p.Thr323ProfsTer?
ENST00000403642.5:c.693del	ENSP00000384919.1:p.Thr232ProfsTer26
ENST00000404276.5:c.966del	ENSP00000385747.1:p.Thr323ProfsTer26
ENST00000405598.5:c.966del	ENSP00000386087.1:p.Thr323ProfsTer26
ENST00000416671.5:c.*456del	ENSP00000402225.1:n.*456del
ENST00000417588.5:c.875del	ENSP00000412901.1:n.875del
ENST00000425190.6:c.303del	ENSP00000390244.1:p.Thr102ProfsTer?
ENST00000433028.6:c.*691del	ENSP00000403659.1:n.*691del
ENST00000433728.5:c.904del	ENSP00000404400.1:n.904del
ENST00000434810.5:c.197del
ENST00000439346.5:c.437del	ENSP00000396903.1:n.437del
ENST00000447421.5:c.765del	ENSP00000397478.2:p.Thr256ProfsTer26
ENST00000448511.5:c.856del	ENSP00000404567.1:n.856del
ENST00000456369.5:c.221del
ENST00000464581.5:c.306del	ENSP00000483777.1:p.Thr103ProfsTer26
ENST00000491919.5:n.523del
NM_001005735.1:c.1095del	NP_001005735.1:p.Thr366ProfsTer26
NM_001257387.1:c.303del	NP_001244316.1:p.Thr102ProfsTer26
NM_007194.3:c.966del	NP_009125.1:p.Thr323ProfsTer26
NM_145862.2:c.966del	NP_665861.1:p.Thr323ProfsTer?
XM_006724114.2:c.486del	XP_006724177.1:p.Thr163ProfsTer26
XM_006724116.2:c.423del	XP_006724179.2:p.Thr142ProfsTer26
XM_011529839.1:c.1125del	XP_011528141.1:p.Thr376ProfsTer26
XM_011529840.1:c.1125del	XP_011528142.1:p.Thr376ProfsTer?
XM_011529841.1:c.894del	XP_011528143.1:p.Thr299ProfsTer26
XM_011529842.1:c.795del	XP_011528144.1:p.Thr266ProfsTer26
XM_011529843.1:c.765del	XP_011528145.1:p.Thr256ProfsTer26
XM_011529844.1:c.1125del	XP_011528146.1:p.Thr376ProfsTer17
XM_011529845.1:c.303del	XP_011528147.1:p.Thr102ProfsTer26
XR_937805.1:n.1125del
XR_937806.1:n.1120del
XR_937807.1:n.1120del
NM_001349956.1:c.765del	NP_001336885.1:p.Thr256ProfsTer26
NM_007194.4:c.966del MANE Select	NP_009125.1:p.Thr323ProfsTer26
XM_006724114.3:c.519del	XP_006724177.2:p.Thr174ProfsTer26
XM_011529839.2:c.1125del	XP_011528141.1:p.Thr376ProfsTer26
XM_011529840.3:c.1125del	XP_011528142.1:p.Thr376ProfsTer?
XM_011529842.2:c.795del	XP_011528144.1:p.Thr266ProfsTer26
XM_011529844.2:c.1125del	XP_011528146.1:p.Thr376ProfsTer17
XM_011529845.2:c.303del	XP_011528147.1:p.Thr102ProfsTer26
XM_017028560.1:c.1089del	XP_016884049.1:p.Thr364ProfsTer26
XM_017028561.2:c.303del	XP_016884050.1:p.Thr102ProfsTer26
XM_024452148.1:c.996del	XP_024307916.1:p.Thr333ProfsTer26
XM_024452149.1:c.996del	XP_024307917.1:p.Thr333ProfsTer?
XR_937805.2:n.1136del
XR_937806.2:n.1136del
XR_937807.2:n.1136del
NM_001005735.2:c.1095del	NP_001005735.1:p.Thr366ProfsTer26
NM_001257387.2:c.303del	NP_001244316.1:p.Thr102ProfsTer26
NM_001349956.2:c.765del	NP_001336885.1:p.Thr256ProfsTer26