Canonical Allele Identifier: CA2400252068

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28724883_28724887delinsCACTT , CM000684.2:g.28724883_28724887delinsCACTT	GRCh38
NC_000022.10:g.29120871_29120875delinsCACTT , CM000684.1:g.29120871_29120875delinsCACTT	GRCh37
NC_000022.9:g.27450871_27450875delinsCACTT	NCBI36
NG_008150.1:g.21948_21952delinsAAGTG
NG_008150.2:g.21980_21984delinsAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.592+90_592+94delinsAAGTG	ENSP00000396903.2:n.592+90_592+94delinsAAGTG
ENST00000711048.1:c.592+90_592+94delinsAAGTG	ENSP00000518557.1:n.592+90_592+94delinsAAGTG
ENST00000402731.6:c.481_482+3delinsAAGTG
ENST00000404276.6:c.592+90_592+94delinsAAGTG MANE Select	ENSP00000385747.1:n.592+90_592+94delinsAAGTG
ENST00000425190.7:c.-72+90_-72+94delinsAAGTG	ENSP00000390244.2:n.-72+90_-72+94delinsAAGTG
ENST00000649563.1:c.-71-5402_-71-5398delinsAAGTG	ENSP00000496928.1:n.-71-5402_-71-5398delinsAAGTG
ENST00000650281.1:c.592+90_592+94delinsAAGTG	ENSP00000497000.1:n.592+90_592+94delinsAAGTG
ENST00000328354.10:c.592+90_592+94delinsAAGTG	ENSP00000329178.6:n.592+90_592+94delinsAAGTG
ENST00000348295.7:c.592+90_592+94delinsAAGTG	ENSP00000329012.5:n.592+90_592+94delinsAAGTG
ENST00000382565.5:c.592+90_592+94delinsAAGTG	ENSP00000372006.2:n.592+90_592+94delinsAAGTG
ENST00000382580.6:c.721+90_721+94delinsAAGTG	ENSP00000372023.2:n.721+90_721+94delinsAAGTG
ENST00000402731.5:c.592+90_592+94delinsAAGTG	ENSP00000384835.1:n.592+90_592+94delinsAAGTG
ENST00000403642.5:c.320-5402_320-5398delinsAAGTG	ENSP00000384919.1:n.320-5402_320-5398delinsAAGTG
ENST00000404276.5:c.592+90_592+94delinsAAGTG	ENSP00000385747.1:n.592+90_592+94delinsAAGTG
ENST00000405598.5:c.592+90_592+94delinsAAGTG	ENSP00000386087.1:n.592+90_592+94delinsAAGTG
ENST00000416671.5:c.592+90_592+94delinsAAGTG	ENSP00000402225.1:n.592+90_592+94delinsAAGTG
ENST00000417588.5:c.592+90_592+94delinsAAGTG	ENSP00000412901.1:n.592+90_592+94delinsAAGTG
ENST00000425190.6:c.-72+90_-72+94delinsAAGTG	ENSP00000390244.1:n.-72+90_-72+94delinsAAGTG
ENST00000433028.6:c.481_485delinsAAGTG	ENSP00000403659.1:p.Lys161=
ENST00000433728.5:c.592+90_592+94delinsAAGTG	ENSP00000404400.1:n.592+90_592+94delinsAAGTG
ENST00000439200.5:c.685+90_685+94delinsAAGTG	ENSP00000408065.1:n.685+90_685+94delinsAAGTG
ENST00000439346.5:c.154+90_154+94delinsAAGTG	ENSP00000396903.1:n.154+90_154+94delinsAAGTG
ENST00000447421.5:c.481_482+3delinsAAGTG
ENST00000448511.5:c.481_482+3delinsAAGTG
NM_001005735.1:c.721+90_721+94delinsAAGTG	NP_001005735.1:n.721+90_721+94delinsAAGTG
NM_001257387.1:c.-186+90_-186+94delinsAAGTG	NP_001244316.1:n.-186+90_-186+94delinsAAGTG
NM_007194.3:c.592+90_592+94delinsAAGTG	NP_009125.1:n.592+90_592+94delinsAAGTG
NM_145862.2:c.592+90_592+94delinsAAGTG	NP_665861.1:n.592+90_592+94delinsAAGTG
XM_011529839.1:c.751+90_751+94delinsAAGTG	XP_011528141.1:n.751+90_751+94delinsAAGTG
XM_011529840.1:c.751+90_751+94delinsAAGTG	XP_011528142.1:n.751+90_751+94delinsAAGTG
XM_011529841.1:c.610_611+3delinsAAGTG
XM_011529842.1:c.511_512+3delinsAAGTG
XM_011529843.1:c.481_482+3delinsAAGTG
XM_011529844.1:c.751+90_751+94delinsAAGTG	XP_011528146.1:n.751+90_751+94delinsAAGTG
XM_011529845.1:c.-72+90_-72+94delinsAAGTG	XP_011528147.1:n.-72+90_-72+94delinsAAGTG
XR_937805.1:n.813+90_813+94delinsAAGTG
XR_937806.1:n.808+90_808+94delinsAAGTG
XR_937807.1:n.808+90_808+94delinsAAGTG
NM_001349956.1:c.481_482+3delinsAAGTG
NM_007194.4:c.592+90_592+94delinsAAGTG MANE Select	NP_009125.1:n.592+90_592+94delinsAAGTG
XM_011529839.2:c.751+90_751+94delinsAAGTG	XP_011528141.1:n.751+90_751+94delinsAAGTG
XM_011529840.3:c.751+90_751+94delinsAAGTG	XP_011528142.1:n.751+90_751+94delinsAAGTG
XM_011529842.2:c.511_512+3delinsAAGTG
XM_011529844.2:c.751+90_751+94delinsAAGTG	XP_011528146.1:n.751+90_751+94delinsAAGTG
XM_011529845.2:c.-72+90_-72+94delinsAAGTG	XP_011528147.1:n.-72+90_-72+94delinsAAGTG
XM_017028560.1:c.715+90_715+94delinsAAGTG	XP_016884049.1:n.715+90_715+94delinsAAGTG
XM_017028561.2:c.-73_-72+3delinsAAGTG
XM_024452148.1:c.622+90_622+94delinsAAGTG	XP_024307916.1:n.622+90_622+94delinsAAGTG
XM_024452149.1:c.622+90_622+94delinsAAGTG	XP_024307917.1:n.622+90_622+94delinsAAGTG
XR_937805.2:n.824+90_824+94delinsAAGTG
XR_937806.2:n.824+90_824+94delinsAAGTG
XR_937807.2:n.824+90_824+94delinsAAGTG
NM_001005735.2:c.721+90_721+94delinsAAGTG	NP_001005735.1:n.721+90_721+94delinsAAGTG
NM_001257387.2:c.-186+90_-186+94delinsAAGTG	NP_001244316.1:n.-186+90_-186+94delinsAAGTG
NM_001349956.2:c.481_482+3delinsAAGTG