Canonical Allele Identifier: CA752167001
Gene: CHEK2 HGNC NCBI

Linked Data

dbSNP Id: rs1320254529

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695917_28695924del , CM000684.2:g.28695917_28695924del GRCh38
NC_000022.10:g.29091905_29091912del , CM000684.1:g.29091905_29091912del GRCh37
NC_000022.9:g.27421905_27421912del NCBI36
NG_008150.1:g.50913_50920del
NG_008150.2:g.50945_50952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-680_1009-673del ENSP00000518557.1:n.1009-680_1009-673del
ENST00000402731.6:c.895-49_895-42del ENSP00000384835.2:n.895-49_895-42del
ENST00000404276.6:c.1096-49_1096-42del MANE Select ENSP00000385747.1:n.1096-49_1096-42del
ENST00000425190.7:c.433-49_433-42del ENSP00000390244.2:n.433-49_433-42del
ENST00000464581.6:c.436-49_436-42del ENSP00000483777.2:n.436-49_436-42del
ENST00000648295.1:n.648-49_648-42del
ENST00000649563.1:c.433-49_433-42del ENSP00000496928.1:n.433-49_433-42del
ENST00000650281.1:c.1096-49_1096-42del ENSP00000497000.1:n.1096-49_1096-42del
ENST00000328354.10:c.1096-49_1096-42del ENSP00000329178.6:n.1096-49_1096-42del
ENST00000348295.7:c.1009-49_1009-42del ENSP00000329012.5:n.1009-49_1009-42del
ENST00000382580.6:c.1225-49_1225-42del ENSP00000372023.2:n.1225-49_1225-42del
ENST00000402731.5:c.1009-49_1009-42del ENSP00000384835.1:n.1009-49_1009-42del
ENST00000403642.5:c.823-49_823-42del ENSP00000384919.1:n.823-49_823-42del
ENST00000404276.5:c.1096-49_1096-42del ENSP00000385747.1:n.1096-49_1096-42del
ENST00000405598.5:c.1096-49_1096-42del ENSP00000386087.1:n.1096-49_1096-42del
ENST00000416671.5:c.*586-49_*586-42del ENSP00000402225.1:n.*586-49_*586-42del
ENST00000417588.5:c.1005-49_1005-42del ENSP00000412901.1:n.1005-49_1005-42del
ENST00000433728.5:c.1034-49_1034-42del ENSP00000404400.1:n.1034-49_1034-42del
ENST00000434810.5:c.327-49_327-42del
ENST00000448511.5:c.986-49_986-42del ENSP00000404567.1:n.986-49_986-42del
ENST00000456369.5:c.263+3916_263+3923del
NM_001005735.1:c.1225-49_1225-42del NP_001005735.1:n.1225-49_1225-42del
NM_001257387.1:c.433-49_433-42del NP_001244316.1:n.433-49_433-42del
NM_007194.3:c.1096-49_1096-42del NP_009125.1:n.1096-49_1096-42del
NM_145862.2:c.1009-49_1009-42del NP_665861.1:n.1009-49_1009-42del
XM_006724114.2:c.616-49_616-42del XP_006724177.1:n.616-49_616-42del
XM_006724116.2:c.553-49_553-42del XP_006724179.2:n.553-49_553-42del
XM_011529839.1:c.1255-49_1255-42del XP_011528141.1:n.1255-49_1255-42del
XM_011529840.1:c.1168-49_1168-42del XP_011528142.1:n.1168-49_1168-42del
XM_011529841.1:c.1024-49_1024-42del XP_011528143.1:n.1024-49_1024-42del
XM_011529842.1:c.925-49_925-42del XP_011528144.1:n.925-49_925-42del
XM_011529843.1:c.895-49_895-42del XP_011528145.1:n.895-49_895-42del
XM_011529845.1:c.433-49_433-42del XP_011528147.1:n.433-49_433-42del
XR_937805.1:n.1255-49_1255-42del
XR_937806.1:n.1163-49_1163-42del
NM_001349956.1:c.895-49_895-42del NP_001336885.1:n.895-49_895-42del
NM_007194.4:c.1096-49_1096-42del MANE Select NP_009125.1:n.1096-49_1096-42del
XM_006724114.3:c.649-49_649-42del XP_006724177.2:n.649-49_649-42del
XM_011529839.2:c.1255-49_1255-42del XP_011528141.1:n.1255-49_1255-42del
XM_011529840.3:c.1168-49_1168-42del XP_011528142.1:n.1168-49_1168-42del
XM_011529842.2:c.925-49_925-42del XP_011528144.1:n.925-49_925-42del
XM_011529845.2:c.433-49_433-42del XP_011528147.1:n.433-49_433-42del
XM_017028560.1:c.1219-49_1219-42del XP_016884049.1:n.1219-49_1219-42del
XM_017028561.2:c.433-49_433-42del XP_016884050.1:n.433-49_433-42del
XM_024452148.1:c.1126-49_1126-42del XP_024307916.1:n.1126-49_1126-42del
XM_024452149.1:c.1039-49_1039-42del XP_024307917.1:n.1039-49_1039-42del
XR_937805.2:n.1266-49_1266-42del
XR_937806.2:n.1179-49_1179-42del
NM_001005735.2:c.1225-49_1225-42del NP_001005735.1:n.1225-49_1225-42del
NM_001257387.2:c.433-49_433-42del NP_001244316.1:n.433-49_433-42del
NM_001349956.2:c.895-49_895-42del NP_001336885.1:n.895-49_895-42del