Canonical Allele Identifier: CA752167300
Gene: CHEK2 HGNC NCBI

Linked Data

dbSNP Id: rs1293917970

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696489_28696490del , CM000684.2:g.28696489_28696490del GRCh38
NC_000022.10:g.29092477_29092478del , CM000684.1:g.29092477_29092478del GRCh37
NC_000022.9:g.27422477_27422478del NCBI36
NG_008150.1:g.50347_50348del
NG_008150.2:g.50379_50380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1246_1009-1245del ENSP00000518557.1:n.1009-1246_1009-1245del
ENST00000402731.6:c.894+413_894+414del ENSP00000384835.2:n.894+413_894+414del
ENST00000404276.6:c.1095+413_1095+414del MANE Select ENSP00000385747.1:n.1095+413_1095+414del
ENST00000425190.7:c.432+413_432+414del ENSP00000390244.2:n.432+413_432+414del
ENST00000464581.6:c.435+413_435+414del ENSP00000483777.2:n.435+413_435+414del
ENST00000648295.1:n.647+413_647+414del
ENST00000649563.1:c.432+413_432+414del ENSP00000496928.1:n.432+413_432+414del
ENST00000650281.1:c.1095+413_1095+414del ENSP00000497000.1:n.1095+413_1095+414del
ENST00000328354.10:c.1095+413_1095+414del ENSP00000329178.6:n.1095+413_1095+414del
ENST00000348295.7:c.1009-615_1009-614del ENSP00000329012.5:n.1009-615_1009-614del
ENST00000382580.6:c.1224+413_1224+414del ENSP00000372023.2:n.1224+413_1224+414del
ENST00000402731.5:c.1009-615_1009-614del ENSP00000384835.1:n.1009-615_1009-614del
ENST00000403642.5:c.822+413_822+414del ENSP00000384919.1:n.822+413_822+414del
ENST00000404276.5:c.1095+413_1095+414del ENSP00000385747.1:n.1095+413_1095+414del
ENST00000405598.5:c.1095+413_1095+414del ENSP00000386087.1:n.1095+413_1095+414del
ENST00000416671.5:c.*585+413_*585+414del ENSP00000402225.1:n.*585+413_*585+414del
ENST00000417588.5:c.1004+413_1004+414del ENSP00000412901.1:n.1004+413_1004+414del
ENST00000433728.5:c.1033+413_1033+414del ENSP00000404400.1:n.1033+413_1033+414del
ENST00000434810.5:c.326+413_326+414del
ENST00000448511.5:c.985+413_985+414del ENSP00000404567.1:n.985+413_985+414del
ENST00000456369.5:c.263+3350_263+3351del
NM_001005735.1:c.1224+413_1224+414del NP_001005735.1:n.1224+413_1224+414del
NM_001257387.1:c.432+413_432+414del NP_001244316.1:n.432+413_432+414del
NM_007194.3:c.1095+413_1095+414del NP_009125.1:n.1095+413_1095+414del
NM_145862.2:c.1009-615_1009-614del NP_665861.1:n.1009-615_1009-614del
XM_006724114.2:c.615+413_615+414del XP_006724177.1:n.615+413_615+414del
XM_006724116.2:c.552+413_552+414del XP_006724179.2:n.552+413_552+414del
XM_011529839.1:c.1254+413_1254+414del XP_011528141.1:n.1254+413_1254+414del
XM_011529840.1:c.1168-615_1168-614del XP_011528142.1:n.1168-615_1168-614del
XM_011529841.1:c.1023+413_1023+414del XP_011528143.1:n.1023+413_1023+414del
XM_011529842.1:c.924+413_924+414del XP_011528144.1:n.924+413_924+414del
XM_011529843.1:c.894+413_894+414del XP_011528145.1:n.894+413_894+414del
XM_011529845.1:c.432+413_432+414del XP_011528147.1:n.432+413_432+414del
XR_937805.1:n.1254+413_1254+414del
XR_937806.1:n.1163-615_1163-614del
NM_001349956.1:c.894+413_894+414del NP_001336885.1:n.894+413_894+414del
NM_007194.4:c.1095+413_1095+414del MANE Select NP_009125.1:n.1095+413_1095+414del
XM_006724114.3:c.648+413_648+414del XP_006724177.2:n.648+413_648+414del
XM_011529839.2:c.1254+413_1254+414del XP_011528141.1:n.1254+413_1254+414del
XM_011529840.3:c.1168-615_1168-614del XP_011528142.1:n.1168-615_1168-614del
XM_011529842.2:c.924+413_924+414del XP_011528144.1:n.924+413_924+414del
XM_011529845.2:c.432+413_432+414del XP_011528147.1:n.432+413_432+414del
XM_017028560.1:c.1218+413_1218+414del XP_016884049.1:n.1218+413_1218+414del
XM_017028561.2:c.432+413_432+414del XP_016884050.1:n.432+413_432+414del
XM_024452148.1:c.1125+413_1125+414del XP_024307916.1:n.1125+413_1125+414del
XM_024452149.1:c.1039-615_1039-614del XP_024307917.1:n.1039-615_1039-614del
XR_937805.2:n.1265+413_1265+414del
XR_937806.2:n.1179-615_1179-614del
NM_001005735.2:c.1224+413_1224+414del NP_001005735.1:n.1224+413_1224+414del
NM_001257387.2:c.432+413_432+414del NP_001244316.1:n.432+413_432+414del
NM_001349956.2:c.894+413_894+414del NP_001336885.1:n.894+413_894+414del