Canonical Allele Identifier: CA2655951785

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28694065-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28694066del , CM000684.2:g.28694066del	GRCh38
NC_000022.10:g.29090054del , CM000684.1:g.29090054del	GRCh37
NC_000022.9:g.27420054del	NCBI36
NG_008150.1:g.52769del
NG_008150.2:g.52801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*162del	ENSP00000518557.1:n.*162del
ENST00000402731.6:c.1226del	ENSP00000384835.2:p.Thr409ArgfsTer6
ENST00000404276.6:c.1427del MANE Select	ENSP00000385747.1:p.Thr476ArgfsTer6
ENST00000425190.7:c.764del	ENSP00000390244.2:p.Thr255ArgfsTer6
ENST00000464581.6:c.767del	ENSP00000483777.2:p.Thr256ArgfsTer6
ENST00000648295.1:n.979del
ENST00000649563.1:c.764del	ENSP00000496928.1:p.Thr255ArgfsTer6
ENST00000650281.1:c.1427del	ENSP00000497000.1:p.Thr476ArgfsTer6
ENST00000328354.10:c.1427del	ENSP00000329178.6:p.Thr476ArgfsTer6
ENST00000348295.7:c.1340del	ENSP00000329012.5:p.Thr447ArgfsTer6
ENST00000382580.6:c.1556del	ENSP00000372023.2:p.Thr519ArgfsTer6
ENST00000402731.5:c.1340del	ENSP00000384835.1:p.Thr447ArgfsTer6
ENST00000403642.5:c.1154del	ENSP00000384919.1:p.Thr385ArgfsTer6
ENST00000404276.5:c.1427del	ENSP00000385747.1:p.Thr476ArgfsTer6
ENST00000405598.5:c.1427del	ENSP00000386087.1:p.Thr476ArgfsTer6
ENST00000416671.5:c.*917del	ENSP00000402225.1:n.*917del
ENST00000417588.5:c.1336del	ENSP00000412901.1:n.1336del
ENST00000433728.5:c.1365del	ENSP00000404400.1:n.1365del
ENST00000434810.5:c.625del
ENST00000448511.5:c.1317del	ENSP00000404567.1:n.1317del
ENST00000456369.5:c.264-4851del
NM_001005735.1:c.1556del	NP_001005735.1:p.Thr519ArgfsTer6
NM_001257387.1:c.764del	NP_001244316.1:p.Thr255ArgfsTer6
NM_007194.3:c.1427del	NP_009125.1:p.Thr476ArgfsTer6
NM_145862.2:c.1340del	NP_665861.1:p.Thr447ArgfsTer6
XM_006724114.2:c.947del	XP_006724177.1:p.Thr316ArgfsTer6
XM_006724116.2:c.884del	XP_006724179.2:p.Thr295ArgfsTer6
XM_011529839.1:c.1586del	XP_011528141.1:p.Thr529ArgfsTer6
XM_011529840.1:c.1499del	XP_011528142.1:p.Thr500ArgfsTer6
XM_011529841.1:c.1355del	XP_011528143.1:p.Thr452ArgfsTer6
XM_011529842.1:c.1256del	XP_011528144.1:p.Thr419ArgfsTer6
XM_011529843.1:c.1226del	XP_011528145.1:p.Thr409ArgfsTer6
XM_011529845.1:c.764del	XP_011528147.1:p.Thr255ArgfsTer6
XR_937805.1:n.1586del
NM_001349956.1:c.1226del	NP_001336885.1:p.Thr409ArgfsTer6
NM_007194.4:c.1427del MANE Select	NP_009125.1:p.Thr476ArgfsTer6
XM_006724114.3:c.980del	XP_006724177.2:p.Thr327ArgfsTer6
XM_011529839.2:c.1586del	XP_011528141.1:p.Thr529ArgfsTer6
XM_011529840.3:c.1499del	XP_011528142.1:p.Thr500ArgfsTer6
XM_011529842.2:c.1256del	XP_011528144.1:p.Thr419ArgfsTer6
XM_011529845.2:c.764del	XP_011528147.1:p.Thr255ArgfsTer6
XM_017028560.1:c.1550del	XP_016884049.1:p.Thr517ArgfsTer6
XM_017028561.2:c.764del	XP_016884050.1:p.Thr255ArgfsTer6
XM_024452148.1:c.1457del	XP_024307916.1:p.Thr486ArgfsTer6
XM_024452149.1:c.1370del	XP_024307917.1:p.Thr457ArgfsTer6
XR_937805.2:n.1597del
NM_001005735.2:c.1556del	NP_001005735.1:p.Thr519ArgfsTer6
NM_001257387.2:c.764del	NP_001244316.1:p.Thr255ArgfsTer6
NM_001349956.2:c.1226del	NP_001336885.1:p.Thr409ArgfsTer6