Canonical Allele Identifier: CA2580099547
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713225
ClinVar RCV Id: RCV003156020

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696638_28702825del , CM000684.2:g.28696638_28702825del GRCh38
NC_000022.10:g.29092626_29098813del , CM000684.1:g.29092626_29098813del GRCh37
NC_000022.9:g.27422626_27428813del NCBI36
NG_008150.1:g.44045_50232del
NG_008150.2:g.44077_50264del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.908+715_1009-1361del
ENST00000402731.6:c.707+715_894+298del
ENST00000404276.6:c.908+715_1095+298del
ENST00000425190.7:c.245+715_432+298del
ENST00000464581.6:c.248+715_435+298del
ENST00000648295.1:n.460+715_647+298del
ENST00000649563.1:c.245+715_432+298del
ENST00000650281.1:c.908+715_1095+298del
ENST00000328354.10:c.908+715_1095+298del
ENST00000348295.7:c.908+715_1009-730del
ENST00000382580.6:c.1037+715_1224+298del
ENST00000402731.5:c.908+715_1009-730del
ENST00000403642.5:c.635+715_822+298del
ENST00000404276.5:c.908+715_1095+298del
ENST00000405598.5:c.908+715_1095+298del
ENST00000416671.5:c.*398+715_*585+298del
ENST00000417588.5:c.817+715_1004+298del
ENST00000433728.5:c.847-2853_1033+298del
ENST00000434810.5:c.139+715_326+298del
ENST00000448511.5:c.798+715_985+298del
ENST00000456369.5:c.163+715_263+3235del
NM_001005735.1:c.1037+715_1224+298del
NM_001257387.1:c.245+715_432+298del
NM_007194.3:c.908+715_1095+298del
NM_145862.2:c.908+715_1009-730del
XM_006724114.2:c.428+715_615+298del
XM_006724116.2:c.365+715_552+298del
XM_011529839.1:c.1067+715_1254+298del
XM_011529840.1:c.1067+715_1168-730del
XM_011529841.1:c.836+715_1023+298del
XM_011529842.1:c.737+715_924+298del
XM_011529843.1:c.707+715_894+298del
XM_011529845.1:c.245+715_432+298del
XR_937805.1:n.1068-2853_1254+298del
XR_937806.1:n.1063-2853_1163-730del
NM_001349956.1:c.707+715_894+298del
NM_007194.4:c.908+715_1095+298del
XM_006724114.3:c.461+715_648+298del
XM_011529839.2:c.1067+715_1254+298del
XM_011529840.3:c.1067+715_1168-730del
XM_011529842.2:c.737+715_924+298del
XM_011529845.2:c.245+715_432+298del
XM_017028560.1:c.1031+715_1218+298del
XM_017028561.2:c.245+715_432+298del
XM_024452148.1:c.938+715_1125+298del
XM_024452149.1:c.938+715_1039-730del
XR_937805.2:n.1079-2853_1265+298del
XR_937806.2:n.1079-2853_1179-730del
NM_001005735.2:c.1037+715_1224+298del
NM_001257387.2:c.245+715_432+298del
NM_001349956.2:c.707+715_894+298del