Canonical Allele Identifier: CA16621058
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418986
ClinVar RCV Id: RCV000485854
dbSNP Id: rs1064793566

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696904_28696907del , CM000684.2:g.28696904_28696907del GRCh38
NC_000022.10:g.29092892_29092895del , CM000684.1:g.29092892_29092895del GRCh37
NC_000022.9:g.27422892_27422895del NCBI36
NG_008150.1:g.49928_49931del
NG_008150.2:g.49960_49963del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-1665_1009-1662del ENSP00000518557.1:n.1009-1665_1009-1662de...
ENST00000402731.6:c.888_891del ENSP00000384835.2:p.Ile297ArgfsTer17
ENST00000404276.6:c.1089_1092del MANE Select ENSP00000385747.1:p.Ile364ArgfsTer17
ENST00000425190.7:c.426_429del ENSP00000390244.2:p.Ile143ArgfsTer17
ENST00000464581.6:c.429_432del ENSP00000483777.2:p.Ile144ArgfsTer17
ENST00000648295.1:n.641_644del
ENST00000649563.1:c.426_429del ENSP00000496928.1:p.Ile143ArgfsTer17
ENST00000650281.1:c.1089_1092del ENSP00000497000.1:p.Ile364ArgfsTer17
ENST00000328354.10:c.1089_1092del ENSP00000329178.6:p.Ile364ArgfsTer17
ENST00000348295.7:c.1009-1034_1009-1031del ENSP00000329012.5:n.1009-1034_1009-1031de...
ENST00000382580.6:c.1218_1221del ENSP00000372023.2:p.Ile407ArgfsTer17
ENST00000402731.5:c.1009-1034_1009-1031del ENSP00000384835.1:n.1009-1034_1009-1031de...
ENST00000403642.5:c.816_819del ENSP00000384919.1:p.Ile273ArgfsTer17
ENST00000404276.5:c.1089_1092del ENSP00000385747.1:p.Ile364ArgfsTer17
ENST00000405598.5:c.1089_1092del ENSP00000386087.1:p.Ile364ArgfsTer17
ENST00000416671.5:c.*579_*582del ENSP00000402225.1:n.*579_*582del
ENST00000417588.5:c.998_1001del ENSP00000412901.1:n.998_1001del
ENST00000433028.6:c.*814_*817del ENSP00000403659.1:n.*814_*817del
ENST00000433728.5:c.1027_1030del ENSP00000404400.1:n.1027_1030del
ENST00000434810.5:c.320_323del
ENST00000447421.5:c.888_891del ENSP00000397478.2:p.Leu296=
ENST00000448511.5:c.979_982del ENSP00000404567.1:n.979_982del
ENST00000456369.5:c.263+2931_263+2934del
NM_001005735.1:c.1218_1221del NP_001005735.1:p.Ile407ArgfsTer17
NM_001257387.1:c.426_429del NP_001244316.1:p.Ile143ArgfsTer17
NM_007194.3:c.1089_1092del NP_009125.1:p.Ile364ArgfsTer17
NM_145862.2:c.1009-1034_1009-1031del NP_665861.1:n.1009-1034_1009-1031del
XM_006724114.2:c.609_612del XP_006724177.1:p.Ile204ArgfsTer17
XM_006724116.2:c.546_549del XP_006724179.2:p.Ile183ArgfsTer17
XM_011529839.1:c.1248_1251del XP_011528141.1:p.Ile417ArgfsTer17
XM_011529840.1:c.1168-1034_1168-1031del XP_011528142.1:n.1168-1034_1168-1031del
XM_011529841.1:c.1017_1020del XP_011528143.1:p.Ile340ArgfsTer17
XM_011529842.1:c.918_921del XP_011528144.1:p.Ile307ArgfsTer17
XM_011529843.1:c.888_891del XP_011528145.1:p.Ile297ArgfsTer17
XM_011529845.1:c.426_429del XP_011528147.1:p.Ile143ArgfsTer17
XR_937805.1:n.1248_1251del
XR_937806.1:n.1163-1034_1163-1031del
NM_001349956.1:c.888_891del NP_001336885.1:p.Ile297ArgfsTer17
NM_007194.4:c.1089_1092del MANE Select NP_009125.1:p.Ile364ArgfsTer17
XM_006724114.3:c.642_645del XP_006724177.2:p.Ile215ArgfsTer17
XM_011529839.2:c.1248_1251del XP_011528141.1:p.Ile417ArgfsTer17
XM_011529840.3:c.1168-1034_1168-1031del XP_011528142.1:n.1168-1034_1168-1031del
XM_011529842.2:c.918_921del XP_011528144.1:p.Ile307ArgfsTer17
XM_011529845.2:c.426_429del XP_011528147.1:p.Ile143ArgfsTer17
XM_017028560.1:c.1212_1215del XP_016884049.1:p.Ile405ArgfsTer17
XM_017028561.2:c.426_429del XP_016884050.1:p.Ile143ArgfsTer17
XM_024452148.1:c.1119_1122del XP_024307916.1:p.Ile374ArgfsTer17
XM_024452149.1:c.1039-1034_1039-1031del XP_024307917.1:n.1039-1034_1039-1031del
XR_937805.2:n.1259_1262del
XR_937806.2:n.1179-1034_1179-1031del
NM_001005735.2:c.1218_1221del NP_001005735.1:p.Ile407ArgfsTer17
NM_001257387.2:c.426_429del NP_001244316.1:p.Ile143ArgfsTer17
NM_001349956.2:c.888_891del NP_001336885.1:p.Ile297ArgfsTer17