Canonical Allele Identifier: CA2499226065
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1077093
ClinVar RCV Id: RCV001391211

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696573_28701967del , CM000684.2:g.28696573_28701967del GRCh38
NC_000022.10:g.29092561_29097955del , CM000684.1:g.29092561_29097955del GRCh37
NC_000022.9:g.27422561_27427955del NCBI36
NG_008150.1:g.44870_50264del
NG_008150.2:g.44902_50296del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.908+1540_1009-1329del
ENST00000402731.6:c.707+1540_894+330del
ENST00000404276.6:c.908+1540_1095+330del
ENST00000425190.7:c.245+1540_432+330del
ENST00000464581.6:c.248+1540_435+330del
ENST00000648295.1:n.460+1540_647+330del
ENST00000649563.1:c.245+1540_432+330del
ENST00000650281.1:c.908+1540_1095+330del
ENST00000328354.10:c.908+1540_1095+330del
ENST00000348295.7:c.908+1540_1009-698del
ENST00000382580.6:c.1037+1540_1224+330del
ENST00000402731.5:c.908+1540_1009-698del
ENST00000403642.5:c.635+1540_822+330del
ENST00000404276.5:c.908+1540_1095+330del
ENST00000405598.5:c.908+1540_1095+330del
ENST00000416671.5:c.*398+1540_*585+330del
ENST00000417588.5:c.817+1540_1004+330del
ENST00000433728.5:c.847-2028_1033+330del
ENST00000434810.5:c.139+1540_326+330del
ENST00000448511.5:c.798+1540_985+330del
ENST00000456369.5:c.163+1540_263+3267del
NM_001005735.1:c.1037+1540_1224+330del
NM_001257387.1:c.245+1540_432+330del
NM_007194.3:c.908+1540_1095+330del
NM_145862.2:c.908+1540_1009-698del
XM_006724114.2:c.428+1540_615+330del
XM_006724116.2:c.365+1540_552+330del
XM_011529839.1:c.1067+1540_1254+330del
XM_011529840.1:c.1067+1540_1168-698del
XM_011529841.1:c.836+1540_1023+330del
XM_011529842.1:c.737+1540_924+330del
XM_011529843.1:c.707+1540_894+330del
XM_011529845.1:c.245+1540_432+330del
XR_937805.1:n.1068-2028_1254+330del
XR_937806.1:n.1063-2028_1163-698del
NM_001349956.1:c.707+1540_894+330del
NM_007194.4:c.908+1540_1095+330del
XM_006724114.3:c.461+1540_648+330del
XM_011529839.2:c.1067+1540_1254+330del
XM_011529840.3:c.1067+1540_1168-698del
XM_011529842.2:c.737+1540_924+330del
XM_011529845.2:c.245+1540_432+330del
XM_017028560.1:c.1031+1540_1218+330del
XM_017028561.2:c.245+1540_432+330del
XM_024452148.1:c.938+1540_1125+330del
XM_024452149.1:c.938+1540_1039-698del
XR_937805.2:n.1079-2028_1265+330del
XR_937806.2:n.1079-2028_1179-698del
NM_001005735.2:c.1037+1540_1224+330del
NM_001257387.2:c.245+1540_432+330del
NM_001349956.2:c.707+1540_894+330del