Canonical Allele Identifier: CA2400238919

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28697073_28697074delinsCT , CM000684.2:g.28697073_28697074delinsCT	GRCh38
NC_000022.10:g.29093061_29093062delinsCT , CM000684.1:g.29093061_29093062delinsCT	GRCh37
NC_000022.9:g.27423061_27423062delinsCT	NCBI36
NG_008150.1:g.49761_49762delinsAG
NG_008150.2:g.49793_49794delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1832_1009-1831delinsAG	ENSP00000518557.1:n.1009-1832_1009-1831delinsAG
ENST00000402731.6:c.808-87_808-86delinsAG	ENSP00000384835.2:n.808-87_808-86delinsAG
ENST00000404276.6:c.1009-87_1009-86delinsAG MANE Select	ENSP00000385747.1:n.1009-87_1009-86delinsAG
ENST00000425190.7:c.346-87_346-86delinsAG	ENSP00000390244.2:n.346-87_346-86delinsAG
ENST00000464581.6:c.349-87_349-86delinsAG	ENSP00000483777.2:n.349-87_349-86delinsAG
ENST00000648295.1:n.561-87_561-86delinsAG
ENST00000649563.1:c.346-87_346-86delinsAG	ENSP00000496928.1:n.346-87_346-86delinsAG
ENST00000650281.1:c.1009-87_1009-86delinsAG	ENSP00000497000.1:n.1009-87_1009-86delinsAG
ENST00000328354.10:c.1009-87_1009-86delinsAG	ENSP00000329178.6:n.1009-87_1009-86delinsAG
ENST00000348295.7:c.1009-1201_1009-1200delinsAG	ENSP00000329012.5:n.1009-1201_1009-1200delinsAG
ENST00000382580.6:c.1138-87_1138-86delinsAG	ENSP00000372023.2:n.1138-87_1138-86delinsAG
ENST00000402731.5:c.1009-1201_1009-1200delinsAG	ENSP00000384835.1:n.1009-1201_1009-1200delinsAG
ENST00000403642.5:c.736-87_736-86delinsAG	ENSP00000384919.1:n.736-87_736-86delinsAG
ENST00000404276.5:c.1009-87_1009-86delinsAG	ENSP00000385747.1:n.1009-87_1009-86delinsAG
ENST00000405598.5:c.1009-87_1009-86delinsAG	ENSP00000386087.1:n.1009-87_1009-86delinsAG
ENST00000416671.5:c.*499-87_*499-86delinsAG	ENSP00000402225.1:n.*499-87_*499-86delinsAG
ENST00000417588.5:c.918-87_918-86delinsAG	ENSP00000412901.1:n.918-87_918-86delinsAG
ENST00000425190.6:c.346-87_346-86delinsAG	ENSP00000390244.1:n.346-87_346-86delinsAG
ENST00000433028.6:c.*734-87_*734-86delinsAG	ENSP00000403659.1:n.*734-87_*734-86delinsAG
ENST00000433728.5:c.947-87_947-86delinsAG	ENSP00000404400.1:n.947-87_947-86delinsAG
ENST00000434810.5:c.240-87_240-86delinsAG
ENST00000447421.5:c.808-87_808-86delinsAG	ENSP00000397478.2:n.808-87_808-86delinsAG
ENST00000448511.5:c.899-87_899-86delinsAG	ENSP00000404567.1:n.899-87_899-86delinsAG
ENST00000456369.5:c.263+2764_263+2765delinsAG
ENST00000464581.5:c.349-87_349-86delinsAG	ENSP00000483777.1:n.349-87_349-86delinsAG
ENST00000491919.5:n.566-87_566-86delinsAG
NM_001005735.1:c.1138-87_1138-86delinsAG	NP_001005735.1:n.1138-87_1138-86delinsAG
NM_001257387.1:c.346-87_346-86delinsAG	NP_001244316.1:n.346-87_346-86delinsAG
NM_007194.3:c.1009-87_1009-86delinsAG	NP_009125.1:n.1009-87_1009-86delinsAG
NM_145862.2:c.1009-1201_1009-1200delinsAG	NP_665861.1:n.1009-1201_1009-1200delinsAG
XM_006724114.2:c.529-87_529-86delinsAG	XP_006724177.1:n.529-87_529-86delinsAG
XM_006724116.2:c.466-87_466-86delinsAG	XP_006724179.2:n.466-87_466-86delinsAG
XM_011529839.1:c.1168-87_1168-86delinsAG	XP_011528141.1:n.1168-87_1168-86delinsAG
XM_011529840.1:c.1168-1201_1168-1200delinsAG	XP_011528142.1:n.1168-1201_1168-1200delinsAG
XM_011529841.1:c.937-87_937-86delinsAG	XP_011528143.1:n.937-87_937-86delinsAG
XM_011529842.1:c.838-87_838-86delinsAG	XP_011528144.1:n.838-87_838-86delinsAG
XM_011529843.1:c.808-87_808-86delinsAG	XP_011528145.1:n.808-87_808-86delinsAG
XM_011529844.1:c.1223_1224delinsAG	XP_011528146.1:p.Gln408=
XM_011529845.1:c.346-87_346-86delinsAG	XP_011528147.1:n.346-87_346-86delinsAG
XR_937805.1:n.1168-87_1168-86delinsAG
XR_937806.1:n.1163-1201_1163-1200delinsAG
XR_937807.1:n.1218_1219delinsAG
NM_001349956.1:c.808-87_808-86delinsAG	NP_001336885.1:n.808-87_808-86delinsAG
NM_007194.4:c.1009-87_1009-86delinsAG MANE Select	NP_009125.1:n.1009-87_1009-86delinsAG
XM_006724114.3:c.562-87_562-86delinsAG	XP_006724177.2:n.562-87_562-86delinsAG
XM_011529839.2:c.1168-87_1168-86delinsAG	XP_011528141.1:n.1168-87_1168-86delinsAG
XM_011529840.3:c.1168-1201_1168-1200delinsAG	XP_011528142.1:n.1168-1201_1168-1200delinsAG
XM_011529842.2:c.838-87_838-86delinsAG	XP_011528144.1:n.838-87_838-86delinsAG
XM_011529844.2:c.1223_1224delinsAG	XP_011528146.1:p.Gln408=
XM_011529845.2:c.346-87_346-86delinsAG	XP_011528147.1:n.346-87_346-86delinsAG
XM_017028560.1:c.1132-87_1132-86delinsAG	XP_016884049.1:n.1132-87_1132-86delinsAG
XM_017028561.2:c.346-87_346-86delinsAG	XP_016884050.1:n.346-87_346-86delinsAG
XM_024452148.1:c.1039-87_1039-86delinsAG	XP_024307916.1:n.1039-87_1039-86delinsAG
XM_024452149.1:c.1039-1201_1039-1200delinsAG	XP_024307917.1:n.1039-1201_1039-1200delinsAG
XR_937805.2:n.1179-87_1179-86delinsAG
XR_937806.2:n.1179-1201_1179-1200delinsAG
XR_937807.2:n.1234_1235delinsAG
NM_001005735.2:c.1138-87_1138-86delinsAG	NP_001005735.1:n.1138-87_1138-86delinsAG
NM_001257387.2:c.346-87_346-86delinsAG	NP_001244316.1:n.346-87_346-86delinsAG
NM_001349956.2:c.808-87_808-86delinsAG	NP_001336885.1:n.808-87_808-86delinsAG