Canonical Allele Identifier: CA2400238920
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28697075_28697105delinsGGGTGAAACCGTAAGCCGTGATACACACAAC , CM000684.2:g.28697075_28697105delinsGGGTGAAACCGTAAGCCGTGATACACACAAC GRCh38
NC_000022.10:g.29093063_29093093delinsGGGTGAAACCGTAAGCCGTGATACACACAAC , CM000684.1:g.29093063_29093093delinsGGGTGAAACCGTAAGCCGTGATACACACAAC GRCh37
NC_000022.9:g.27423063_27423093delinsGGGTGAAACCGTAAGCCGTGATACACACAAC NCBI36
NG_008150.1:g.49730_49760delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
NG_008150.2:g.49762_49792delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1863_1009-1833delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000518557.1:n.1009-1863_1009-1833delinsGTTGTGTGTATCACGG...
ENST00000402731.6:c.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000384835.2:n.808-118_808-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000404276.6:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC MANE Select ENSP00000385747.1:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTT...
ENST00000425190.7:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000390244.2:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000464581.6:c.349-118_349-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000483777.2:n.349-118_349-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000648295.1:n.561-118_561-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
ENST00000649563.1:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000496928.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000650281.1:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000497000.1:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTT...
ENST00000328354.10:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000329178.6:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTT...
ENST00000348295.7:c.1009-1232_1009-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000329012.5:n.1009-1232_1009-1202delinsGTTGTGTGTATCACGG...
ENST00000382580.6:c.1138-118_1138-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000372023.2:n.1138-118_1138-88delinsGTTGTGTGTATCACGGCTT...
ENST00000402731.5:c.1009-1232_1009-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000384835.1:n.1009-1232_1009-1202delinsGTTGTGTGTATCACGG...
ENST00000403642.5:c.736-118_736-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000384919.1:n.736-118_736-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000404276.5:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000385747.1:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTT...
ENST00000405598.5:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000386087.1:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTT...
ENST00000416671.5:c.*499-118_*499-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000402225.1:n.*499-118_*499-88delinsGTTGTGTGTATCACGGCTT...
ENST00000417588.5:c.918-118_918-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000412901.1:n.918-118_918-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000425190.6:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000390244.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000433028.6:c.*734-118_*734-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000403659.1:n.*734-118_*734-88delinsGTTGTGTGTATCACGGCTT...
ENST00000433728.5:c.947-118_947-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000404400.1:n.947-118_947-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000434810.5:c.240-118_240-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
ENST00000447421.5:c.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000397478.2:n.808-118_808-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000448511.5:c.899-118_899-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000404567.1:n.899-118_899-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000456369.5:c.263+2733_263+2763delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
ENST00000464581.5:c.349-118_349-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC ENSP00000483777.1:n.349-118_349-88delinsGTTGTGTGTATCACGGCTTAC...
ENST00000491919.5:n.566-118_566-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
NM_001005735.1:c.1138-118_1138-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_001005735.1:n.1138-118_1138-88delinsGTTGTGTGTATCACGGCTTACG...
NM_001257387.1:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_001244316.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGT...
NM_007194.3:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_009125.1:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTT...
NM_145862.2:c.1009-1232_1009-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_665861.1:n.1009-1232_1009-1202delinsGTTGTGTGTATCACGGCTTACG...
XM_006724114.2:c.529-118_529-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_006724177.1:n.529-118_529-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_006724116.2:c.466-118_466-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_006724179.2:n.466-118_466-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_011529839.1:c.1168-118_1168-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528141.1:n.1168-118_1168-88delinsGTTGTGTGTATCACGGCTTACG...
XM_011529840.1:c.1168-1232_1168-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528142.1:n.1168-1232_1168-1202delinsGTTGTGTGTATCACGGCTT...
XM_011529841.1:c.937-118_937-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528143.1:n.937-118_937-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_011529842.1:c.838-118_838-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528144.1:n.838-118_838-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_011529843.1:c.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528145.1:n.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_011529844.1:c.1192_1222delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528146.1:p.Val398=
XM_011529845.1:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528147.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGT...
XR_937805.1:n.1168-118_1168-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
XR_937806.1:n.1163-1232_1163-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
XR_937807.1:n.1187_1217delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
NM_001349956.1:c.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_001336885.1:n.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGT...
NM_007194.4:c.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC MANE Select NP_009125.1:n.1009-118_1009-88delinsGTTGTGTGTATCACGGCTTACGGTT...
XM_006724114.3:c.562-118_562-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_006724177.2:n.562-118_562-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_011529839.2:c.1168-118_1168-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528141.1:n.1168-118_1168-88delinsGTTGTGTGTATCACGGCTTACG...
XM_011529840.3:c.1168-1232_1168-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528142.1:n.1168-1232_1168-1202delinsGTTGTGTGTATCACGGCTT...
XM_011529842.2:c.838-118_838-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528144.1:n.838-118_838-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_011529844.2:c.1192_1222delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528146.1:p.Val398=
XM_011529845.2:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_011528147.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_017028560.1:c.1132-118_1132-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_016884049.1:n.1132-118_1132-88delinsGTTGTGTGTATCACGGCTTACG...
XM_017028561.2:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_016884050.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGT...
XM_024452148.1:c.1039-118_1039-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_024307916.1:n.1039-118_1039-88delinsGTTGTGTGTATCACGGCTTACG...
XM_024452149.1:c.1039-1232_1039-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC XP_024307917.1:n.1039-1232_1039-1202delinsGTTGTGTGTATCACGGCTT...
XR_937805.2:n.1179-118_1179-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
XR_937806.2:n.1179-1232_1179-1202delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
XR_937807.2:n.1203_1233delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC
NM_001005735.2:c.1138-118_1138-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_001005735.1:n.1138-118_1138-88delinsGTTGTGTGTATCACGGCTTACG...
NM_001257387.2:c.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_001244316.1:n.346-118_346-88delinsGTTGTGTGTATCACGGCTTACGGT...
NM_001349956.2:c.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGTTTCACCC NP_001336885.1:n.808-118_808-88delinsGTTGTGTGTATCACGGCTTACGGT...