Canonical Allele Identifier: CA2825002873
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3226018
ClinVar RCV Id: RCV004517288

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695805_28695810del , CM000684.2:g.28695805_28695810del GRCh38
NC_000022.10:g.29091793_29091798del , CM000684.1:g.29091793_29091798del GRCh37
NC_000022.9:g.27421793_27421798del NCBI36
NG_008150.1:g.51028_51033del
NG_008150.2:g.51060_51065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-565_1009-560del ENSP00000518557.1:n.1009-565_1009-560del
ENST00000402731.6:c.961_966del ENSP00000384835.2:p.Pro321_Thr322del
ENST00000404276.6:c.1162_1167del MANE Select ENSP00000385747.1:p.Pro388_Thr389del
ENST00000425190.7:c.499_504del ENSP00000390244.2:p.Pro167_Thr168del
ENST00000464581.6:c.502_507del ENSP00000483777.2:p.Pro168_Thr169del
ENST00000648295.1:n.714_719del
ENST00000649563.1:c.499_504del ENSP00000496928.1:p.Pro167_Thr168del
ENST00000650281.1:c.1162_1167del ENSP00000497000.1:p.Pro388_Thr389del
ENST00000328354.10:c.1162_1167del ENSP00000329178.6:p.Pro388_Thr389del
ENST00000348295.7:c.1075_1080del ENSP00000329012.5:p.Pro359_Thr360del
ENST00000382580.6:c.1291_1296del ENSP00000372023.2:p.Pro431_Thr432del
ENST00000402731.5:c.1075_1080del ENSP00000384835.1:p.Pro359_Thr360del
ENST00000403642.5:c.889_894del ENSP00000384919.1:p.Pro297_Thr298del
ENST00000404276.5:c.1162_1167del ENSP00000385747.1:p.Pro388_Thr389del
ENST00000405598.5:c.1162_1167del ENSP00000386087.1:p.Pro388_Thr389del
ENST00000416671.5:c.*652_*657del ENSP00000402225.1:n.*652_*657del
ENST00000417588.5:c.1071_1076del ENSP00000412901.1:n.1071_1076del
ENST00000433728.5:c.1100_1105del ENSP00000404400.1:n.1100_1105del
ENST00000434810.5:c.393_398del
ENST00000448511.5:c.1052_1057del ENSP00000404567.1:n.1052_1057del
ENST00000456369.5:c.263+4031_263+4036del
NM_001005735.1:c.1291_1296del NP_001005735.1:p.Pro431_Thr432del
NM_001257387.1:c.499_504del NP_001244316.1:p.Pro167_Thr168del
NM_007194.3:c.1162_1167del NP_009125.1:p.Pro388_Thr389del
NM_145862.2:c.1075_1080del NP_665861.1:p.Pro359_Thr360del
XM_006724114.2:c.682_687del XP_006724177.1:p.Pro228_Thr229del
XM_006724116.2:c.619_624del XP_006724179.2:p.Pro207_Thr208del
XM_011529839.1:c.1321_1326del XP_011528141.1:p.Pro441_Thr442del
XM_011529840.1:c.1234_1239del XP_011528142.1:p.Pro412_Thr413del
XM_011529841.1:c.1090_1095del XP_011528143.1:p.Pro364_Thr365del
XM_011529842.1:c.991_996del XP_011528144.1:p.Pro331_Thr332del
XM_011529843.1:c.961_966del XP_011528145.1:p.Pro321_Thr322del
XM_011529845.1:c.499_504del XP_011528147.1:p.Pro167_Thr168del
XR_937805.1:n.1321_1326del
XR_937806.1:n.1229_1234del
NM_001349956.1:c.961_966del NP_001336885.1:p.Pro321_Thr322del
NM_007194.4:c.1162_1167del MANE Select NP_009125.1:p.Pro388_Thr389del
XM_006724114.3:c.715_720del XP_006724177.2:p.Pro239_Thr240del
XM_011529839.2:c.1321_1326del XP_011528141.1:p.Pro441_Thr442del
XM_011529840.3:c.1234_1239del XP_011528142.1:p.Pro412_Thr413del
XM_011529842.2:c.991_996del XP_011528144.1:p.Pro331_Thr332del
XM_011529845.2:c.499_504del XP_011528147.1:p.Pro167_Thr168del
XM_017028560.1:c.1285_1290del XP_016884049.1:p.Pro429_Thr430del
XM_017028561.2:c.499_504del XP_016884050.1:p.Pro167_Thr168del
XM_024452148.1:c.1192_1197del XP_024307916.1:p.Pro398_Thr399del
XM_024452149.1:c.1105_1110del XP_024307917.1:p.Pro369_Thr370del
XR_937805.2:n.1332_1337del
XR_937806.2:n.1245_1250del
NM_001005735.2:c.1291_1296del NP_001005735.1:p.Pro431_Thr432del
NM_001257387.2:c.499_504del NP_001244316.1:p.Pro167_Thr168del
NM_001349956.2:c.961_966del NP_001336885.1:p.Pro321_Thr322del