Canonical Allele Identifier: CA2837995209

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28697074_28697105del , CM000684.2:g.28697074_28697105del	GRCh38
NC_000022.10:g.29093062_29093093del , CM000684.1:g.29093062_29093093del	GRCh37
NC_000022.9:g.27423062_27423093del	NCBI36
NG_008150.1:g.49731_49762del
NG_008150.2:g.49763_49794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1862_1009-1831del	ENSP00000518557.1:n.1009-1862_1009-1831del
ENST00000402731.6:c.808-117_808-86del	ENSP00000384835.2:n.808-117_808-86del
ENST00000404276.6:c.1009-117_1009-86del MANE Select	ENSP00000385747.1:n.1009-117_1009-86del
ENST00000425190.7:c.346-117_346-86del	ENSP00000390244.2:n.346-117_346-86del
ENST00000464581.6:c.349-117_349-86del	ENSP00000483777.2:n.349-117_349-86del
ENST00000648295.1:n.561-117_561-86del
ENST00000649563.1:c.346-117_346-86del	ENSP00000496928.1:n.346-117_346-86del
ENST00000650281.1:c.1009-117_1009-86del	ENSP00000497000.1:n.1009-117_1009-86del
ENST00000328354.10:c.1009-117_1009-86del	ENSP00000329178.6:n.1009-117_1009-86del
ENST00000348295.7:c.1009-1231_1009-1200del	ENSP00000329012.5:n.1009-1231_1009-1200del
ENST00000382580.6:c.1138-117_1138-86del	ENSP00000372023.2:n.1138-117_1138-86del
ENST00000402731.5:c.1009-1231_1009-1200del	ENSP00000384835.1:n.1009-1231_1009-1200del
ENST00000403642.5:c.736-117_736-86del	ENSP00000384919.1:n.736-117_736-86del
ENST00000404276.5:c.1009-117_1009-86del	ENSP00000385747.1:n.1009-117_1009-86del
ENST00000405598.5:c.1009-117_1009-86del	ENSP00000386087.1:n.1009-117_1009-86del
ENST00000416671.5:c.*499-117_*499-86del	ENSP00000402225.1:n.*499-117_*499-86del
ENST00000417588.5:c.918-117_918-86del	ENSP00000412901.1:n.918-117_918-86del
ENST00000425190.6:c.346-117_346-86del	ENSP00000390244.1:n.346-117_346-86del
ENST00000433028.6:c.*734-117_*734-86del	ENSP00000403659.1:n.*734-117_*734-86del
ENST00000433728.5:c.947-117_947-86del	ENSP00000404400.1:n.947-117_947-86del
ENST00000434810.5:c.240-117_240-86del
ENST00000447421.5:c.808-117_808-86del	ENSP00000397478.2:n.808-117_808-86del
ENST00000448511.5:c.899-117_899-86del	ENSP00000404567.1:n.899-117_899-86del
ENST00000456369.5:c.263+2734_263+2765del
ENST00000464581.5:c.349-117_349-86del	ENSP00000483777.1:n.349-117_349-86del
ENST00000491919.5:n.566-117_566-86del
NM_001005735.1:c.1138-117_1138-86del	NP_001005735.1:n.1138-117_1138-86del
NM_001257387.1:c.346-117_346-86del	NP_001244316.1:n.346-117_346-86del
NM_007194.3:c.1009-117_1009-86del	NP_009125.1:n.1009-117_1009-86del
NM_145862.2:c.1009-1231_1009-1200del	NP_665861.1:n.1009-1231_1009-1200del
XM_006724114.2:c.529-117_529-86del	XP_006724177.1:n.529-117_529-86del
XM_006724116.2:c.466-117_466-86del	XP_006724179.2:n.466-117_466-86del
XM_011529839.1:c.1168-117_1168-86del	XP_011528141.1:n.1168-117_1168-86del
XM_011529840.1:c.1168-1231_1168-1200del	XP_011528142.1:n.1168-1231_1168-1200del
XM_011529841.1:c.937-117_937-86del	XP_011528143.1:n.937-117_937-86del
XM_011529842.1:c.838-117_838-86del	XP_011528144.1:n.838-117_838-86del
XM_011529843.1:c.808-117_808-86del	XP_011528145.1:n.808-117_808-86del
XM_011529844.1:c.1193_1224del	XP_011528146.1:p.Val398AlafsTer8
XM_011529845.1:c.346-117_346-86del	XP_011528147.1:n.346-117_346-86del
XR_937805.1:n.1168-117_1168-86del
XR_937806.1:n.1163-1231_1163-1200del
XR_937807.1:n.1188_1219del
NM_001349956.1:c.808-117_808-86del	NP_001336885.1:n.808-117_808-86del
NM_007194.4:c.1009-117_1009-86del MANE Select	NP_009125.1:n.1009-117_1009-86del
XM_006724114.3:c.562-117_562-86del	XP_006724177.2:n.562-117_562-86del
XM_011529839.2:c.1168-117_1168-86del	XP_011528141.1:n.1168-117_1168-86del
XM_011529840.3:c.1168-1231_1168-1200del	XP_011528142.1:n.1168-1231_1168-1200del
XM_011529842.2:c.838-117_838-86del	XP_011528144.1:n.838-117_838-86del
XM_011529844.2:c.1193_1224del	XP_011528146.1:p.Val398AlafsTer8
XM_011529845.2:c.346-117_346-86del	XP_011528147.1:n.346-117_346-86del
XM_017028560.1:c.1132-117_1132-86del	XP_016884049.1:n.1132-117_1132-86del
XM_017028561.2:c.346-117_346-86del	XP_016884050.1:n.346-117_346-86del
XM_024452148.1:c.1039-117_1039-86del	XP_024307916.1:n.1039-117_1039-86del
XM_024452149.1:c.1039-1231_1039-1200del	XP_024307917.1:n.1039-1231_1039-1200del
XR_937805.2:n.1179-117_1179-86del
XR_937806.2:n.1179-1231_1179-1200del
XR_937807.2:n.1204_1235del
NM_001005735.2:c.1138-117_1138-86del	NP_001005735.1:n.1138-117_1138-86del
NM_001257387.2:c.346-117_346-86del	NP_001244316.1:n.346-117_346-86del
NM_001349956.2:c.808-117_808-86del	NP_001336885.1:n.808-117_808-86del