Canonical Allele Identifier: CA2400240168

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699838_28699839delinsCT , CM000684.2:g.28699838_28699839delinsCT	GRCh38
NC_000022.10:g.29095826_29095827delinsCT , CM000684.1:g.29095826_29095827delinsCT	GRCh37
NC_000022.9:g.27425826_27425827delinsCT	NCBI36
NG_008150.1:g.46996_46997delinsAG
NG_008150.2:g.47028_47029delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.916_917delinsAG	ENSP00000396903.2:n.916_917delinsAG
ENST00000711048.1:c.1007_1008delinsAG	ENSP00000518557.1:p.Gln336=
ENST00000402731.6:c.806_807delinsAG	ENSP00000384835.2:p.Gln269=
ENST00000404276.6:c.1007_1008delinsAG MANE Select	ENSP00000385747.1:p.Gln336=
ENST00000425190.7:c.344_345delinsAG	ENSP00000390244.2:p.Gln115=
ENST00000464581.6:c.347_348delinsAG	ENSP00000483777.2:p.Gln116=
ENST00000648295.1:n.559_560delinsAG
ENST00000649563.1:c.344_345delinsAG	ENSP00000496928.1:p.Gln115=
ENST00000650281.1:c.1007_1008delinsAG	ENSP00000497000.1:p.Gln336=
ENST00000328354.10:c.1007_1008delinsAG	ENSP00000329178.6:p.Gln336=
ENST00000348295.7:c.1007_1008delinsAG	ENSP00000329012.5:p.Gln336=
ENST00000382580.6:c.1136_1137delinsAG	ENSP00000372023.2:p.Gln379=
ENST00000402731.5:c.1007_1008delinsAG	ENSP00000384835.1:p.Gln336=
ENST00000403642.5:c.734_735delinsAG	ENSP00000384919.1:p.Gln245=
ENST00000404276.5:c.1007_1008delinsAG	ENSP00000385747.1:p.Gln336=
ENST00000405598.5:c.1007_1008delinsAG	ENSP00000386087.1:p.Gln336=
ENST00000416671.5:c.*497_*498delinsAG	ENSP00000402225.1:n.*497_*498delinsAG
ENST00000417588.5:c.916_917delinsAG	ENSP00000412901.1:n.916_917delinsAG
ENST00000425190.6:c.344_345delinsAG	ENSP00000390244.1:p.Gln115=
ENST00000433028.6:c.*732_*733delinsAG	ENSP00000403659.1:n.*732_*733delinsAG
ENST00000433728.5:c.945_946delinsAG	ENSP00000404400.1:n.945_946delinsAG
ENST00000434810.5:c.238_239delinsAG
ENST00000439346.5:c.478_479delinsAG	ENSP00000396903.1:n.478_479delinsAG
ENST00000447421.5:c.806_807delinsAG	ENSP00000397478.2:p.Gln269=
ENST00000448511.5:c.897_898delinsAG	ENSP00000404567.1:n.897_898delinsAG
ENST00000456369.5:c.262_263delinsAG
ENST00000464581.5:c.347_348delinsAG	ENSP00000483777.1:p.Gln116=
ENST00000491919.5:n.564_565delinsAG
NM_001005735.1:c.1136_1137delinsAG	NP_001005735.1:p.Gln379=
NM_001257387.1:c.344_345delinsAG	NP_001244316.1:p.Gln115=
NM_007194.3:c.1007_1008delinsAG	NP_009125.1:p.Gln336=
NM_145862.2:c.1007_1008delinsAG	NP_665861.1:p.Gln336=
XM_006724114.2:c.527_528delinsAG	XP_006724177.1:p.Gln176=
XM_006724116.2:c.464_465delinsAG	XP_006724179.2:p.Gln155=
XM_011529839.1:c.1166_1167delinsAG	XP_011528141.1:p.Gln389=
XM_011529840.1:c.1166_1167delinsAG	XP_011528142.1:p.Gln389=
XM_011529841.1:c.935_936delinsAG	XP_011528143.1:p.Gln312=
XM_011529842.1:c.836_837delinsAG	XP_011528144.1:p.Gln279=
XM_011529843.1:c.806_807delinsAG	XP_011528145.1:p.Gln269=
XM_011529844.1:c.1166_1167delinsAG	XP_011528146.1:p.Gln389=
XM_011529845.1:c.344_345delinsAG	XP_011528147.1:p.Gln115=
XR_937805.1:n.1166_1167delinsAG
XR_937806.1:n.1161_1162delinsAG
XR_937807.1:n.1161_1162delinsAG
NM_001349956.1:c.806_807delinsAG	NP_001336885.1:p.Gln269=
NM_007194.4:c.1007_1008delinsAG MANE Select	NP_009125.1:p.Gln336=
XM_006724114.3:c.560_561delinsAG	XP_006724177.2:p.Gln187=
XM_011529839.2:c.1166_1167delinsAG	XP_011528141.1:p.Gln389=
XM_011529840.3:c.1166_1167delinsAG	XP_011528142.1:p.Gln389=
XM_011529842.2:c.836_837delinsAG	XP_011528144.1:p.Gln279=
XM_011529844.2:c.1166_1167delinsAG	XP_011528146.1:p.Gln389=
XM_011529845.2:c.344_345delinsAG	XP_011528147.1:p.Gln115=
XM_017028560.1:c.1130_1131delinsAG	XP_016884049.1:p.Gln377=
XM_017028561.2:c.344_345delinsAG	XP_016884050.1:p.Gln115=
XM_024452148.1:c.1037_1038delinsAG	XP_024307916.1:p.Gln346=
XM_024452149.1:c.1037_1038delinsAG	XP_024307917.1:p.Gln346=
XR_937805.2:n.1177_1178delinsAG
XR_937806.2:n.1177_1178delinsAG
XR_937807.2:n.1177_1178delinsAG
NM_001005735.2:c.1136_1137delinsAG	NP_001005735.1:p.Gln379=
NM_001257387.2:c.344_345delinsAG	NP_001244316.1:p.Gln115=
NM_001349956.2:c.806_807delinsAG	NP_001336885.1:p.Gln269=