Canonical Allele Identifier: CA658656835

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696926_28696937del , CM000684.2:g.28696926_28696937del	GRCh38
NC_000022.10:g.29092914_29092925del , CM000684.1:g.29092914_29092925del	GRCh37
NC_000022.9:g.27422914_27422925del	NCBI36
NG_008150.1:g.49899_49910del
NG_008150.2:g.49931_49942del

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.1060_1071del MANE Select	NP_009125.1:p.Leu354_Ser357del
ENST00000404276.6:c.1060_1071del MANE Select	ENSP00000385747.1:p.Leu354_Ser357del
NM_001005735.1:c.1189_1200del	NP_001005735.1:p.Leu397_Ser400del
NM_001005735.2:c.1189_1200del	NP_001005735.1:p.Leu397_Ser400del
NM_001257387.1:c.397_408del	NP_001244316.1:p.Leu133_Ser136del
NM_001257387.2:c.397_408del	NP_001244316.1:p.Leu133_Ser136del
NM_001349956.1:c.859_870del	NP_001336885.1:p.Leu287_Ser290del
NM_001349956.2:c.859_870del	NP_001336885.1:p.Leu287_Ser290del
NM_007194.3:c.1060_1071del	NP_009125.1:p.Leu354_Ser357del
NM_145862.2:c.1009-1063_1009-1052del	NP_665861.1:n.1009-1063_1009-1052del
ENST00000328354.10:c.1060_1071del	ENSP00000329178.6:p.Leu354_Ser357del
ENST00000348295.7:c.1009-1063_1009-1052del	ENSP00000329012.5:n.1009-1063_1009-1052del
ENST00000382580.6:c.1189_1200del	ENSP00000372023.2:p.Leu397_Ser400del
ENST00000402731.5:c.1009-1063_1009-1052del	ENSP00000384835.1:n.1009-1063_1009-1052del
ENST00000402731.6:c.859_870del	ENSP00000384835.2:p.Leu287_Ser290del
ENST00000403642.5:c.787_798del	ENSP00000384919.1:p.Leu263_Ser266del
ENST00000404276.5:c.1060_1071del	ENSP00000385747.1:p.Leu354_Ser357del
ENST00000405598.5:c.1060_1071del	ENSP00000386087.1:p.Leu354_Ser357del
ENST00000416671.5:c.*550_*561del	ENSP00000402225.1:n.*550_*561del
ENST00000417588.5:c.969_980del	ENSP00000412901.1:n.969_980del
ENST00000425190.7:c.397_408del	ENSP00000390244.2:p.Leu133_Ser136del
ENST00000433028.6:c.*785_*796del	ENSP00000403659.1:n.*785_*796del
ENST00000433728.5:c.998_1009del	ENSP00000404400.1:n.998_1009del
ENST00000434810.5:c.291_302del
ENST00000447421.5:c.859_870del	ENSP00000397478.2:p.Leu287_Ser290del
ENST00000448511.5:c.950_961del	ENSP00000404567.1:n.950_961del
ENST00000456369.5:c.263+2902_263+2913del
ENST00000464581.5:c.400_411del	ENSP00000483777.1:p.Leu134_Ser137del
ENST00000464581.6:c.400_411del	ENSP00000483777.2:p.Leu134_Ser137del
ENST00000648295.1:n.612_623del
ENST00000649563.1:c.397_408del	ENSP00000496928.1:p.Leu133_Ser136del
ENST00000650281.1:c.1060_1071del	ENSP00000497000.1:p.Leu354_Ser357del
ENST00000711048.1:c.1009-1694_1009-1683del	ENSP00000518557.1:n.1009-1694_1009-1683del
XM_006724114.2:c.580_591del	XP_006724177.1:p.Leu194_Ser197del
XM_006724114.3:c.613_624del	XP_006724177.2:p.Leu205_Ser208del
XM_006724116.2:c.517_528del	XP_006724179.2:p.Leu173_Ser176del
XM_011529839.1:c.1219_1230del	XP_011528141.1:p.Leu407_Ser410del
XM_011529839.2:c.1219_1230del	XP_011528141.1:p.Leu407_Ser410del
XM_011529840.1:c.1168-1063_1168-1052del	XP_011528142.1:n.1168-1063_1168-1052del
XM_011529840.3:c.1168-1063_1168-1052del	XP_011528142.1:n.1168-1063_1168-1052del
XM_011529841.1:c.988_999del	XP_011528143.1:p.Leu330_Ser333del
XM_011529842.1:c.889_900del	XP_011528144.1:p.Leu297_Ser300del
XM_011529842.2:c.889_900del	XP_011528144.1:p.Leu297_Ser300del
XM_011529843.1:c.859_870del	XP_011528145.1:p.Leu287_Ser290del
XM_011529845.1:c.397_408del	XP_011528147.1:p.Leu133_Ser136del
XM_011529845.2:c.397_408del	XP_011528147.1:p.Leu133_Ser136del
XM_017028560.1:c.1183_1194del	XP_016884049.1:p.Leu395_Ser398del
XM_017028561.2:c.397_408del	XP_016884050.1:p.Leu133_Ser136del
XM_024452148.1:c.1090_1101del	XP_024307916.1:p.Leu364_Ser367del
XM_024452149.1:c.1039-1063_1039-1052del	XP_024307917.1:n.1039-1063_1039-1052del
XR_937805.1:n.1219_1230del
XR_937805.2:n.1230_1241del
XR_937806.1:n.1163-1063_1163-1052del
XR_937806.2:n.1179-1063_1179-1052del