Canonical Allele Identifier: CA16616322
Gene: CHEK2 HGNC NCBI

Linked Data

dbSNP Id: rs1060502684

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695834_28695835del , CM000684.2:g.28695834_28695835del GRCh38
NC_000022.10:g.29091822_29091823del , CM000684.1:g.29091822_29091823del GRCh37
NC_000022.9:g.27421822_27421823del NCBI36
NG_008150.1:g.51005_51006del
NG_008150.2:g.51037_51038del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-588_1009-587del ENSP00000518557.1:n.1009-588_1009-587del
ENST00000402731.6:c.938_939del ENSP00000384835.2:p.Leu313HisfsTer14
ENST00000404276.6:c.1139_1140del MANE Select ENSP00000385747.1:p.Leu380HisfsTer14
ENST00000425190.7:c.476_477del ENSP00000390244.2:p.Leu159HisfsTer14
ENST00000464581.6:c.479_480del ENSP00000483777.2:p.Leu160HisfsTer14
ENST00000648295.1:n.691_692del
ENST00000649563.1:c.476_477del ENSP00000496928.1:p.Leu159HisfsTer14
ENST00000650281.1:c.1139_1140del ENSP00000497000.1:p.Leu380HisfsTer14
ENST00000328354.10:c.1139_1140del ENSP00000329178.6:p.Leu380HisfsTer14
ENST00000348295.7:c.1052_1053del ENSP00000329012.5:p.Leu351HisfsTer14
ENST00000382580.6:c.1268_1269del ENSP00000372023.2:p.Leu423HisfsTer14
ENST00000402731.5:c.1052_1053del ENSP00000384835.1:p.Leu351HisfsTer14
ENST00000403642.5:c.866_867del ENSP00000384919.1:p.Leu289HisfsTer14
ENST00000404276.5:c.1139_1140del ENSP00000385747.1:p.Leu380HisfsTer14
ENST00000405598.5:c.1139_1140del ENSP00000386087.1:p.Leu380HisfsTer14
ENST00000416671.5:c.*629_*630del ENSP00000402225.1:n.*629_*630del
ENST00000417588.5:c.1048_1049del ENSP00000412901.1:n.1048_1049del
ENST00000433728.5:c.1077_1078del ENSP00000404400.1:n.1077_1078del
ENST00000434810.5:c.370_371del
ENST00000448511.5:c.1029_1030del ENSP00000404567.1:n.1029_1030del
ENST00000456369.5:c.263+4008_263+4009del
NM_001005735.1:c.1268_1269del NP_001005735.1:p.Leu423HisfsTer14
NM_001257387.1:c.476_477del NP_001244316.1:p.Leu159HisfsTer14
NM_007194.3:c.1139_1140del NP_009125.1:p.Leu380HisfsTer14
NM_145862.2:c.1052_1053del NP_665861.1:p.Leu351HisfsTer14
XM_006724114.2:c.659_660del XP_006724177.1:p.Leu220HisfsTer14
XM_006724116.2:c.596_597del XP_006724179.2:p.Leu199HisfsTer14
XM_011529839.1:c.1298_1299del XP_011528141.1:p.Leu433HisfsTer14
XM_011529840.1:c.1211_1212del XP_011528142.1:p.Leu404HisfsTer14
XM_011529841.1:c.1067_1068del XP_011528143.1:p.Leu356HisfsTer14
XM_011529842.1:c.968_969del XP_011528144.1:p.Leu323HisfsTer14
XM_011529843.1:c.938_939del XP_011528145.1:p.Leu313HisfsTer14
XM_011529845.1:c.476_477del XP_011528147.1:p.Leu159HisfsTer14
XR_937805.1:n.1298_1299del
XR_937806.1:n.1206_1207del
NM_001349956.1:c.938_939del NP_001336885.1:p.Leu313HisfsTer14
NM_007194.4:c.1139_1140del MANE Select NP_009125.1:p.Leu380HisfsTer14
XM_006724114.3:c.692_693del XP_006724177.2:p.Leu231HisfsTer14
XM_011529839.2:c.1298_1299del XP_011528141.1:p.Leu433HisfsTer14
XM_011529840.3:c.1211_1212del XP_011528142.1:p.Leu404HisfsTer14
XM_011529842.2:c.968_969del XP_011528144.1:p.Leu323HisfsTer14
XM_011529845.2:c.476_477del XP_011528147.1:p.Leu159HisfsTer14
XM_017028560.1:c.1262_1263del XP_016884049.1:p.Leu421HisfsTer14
XM_017028561.2:c.476_477del XP_016884050.1:p.Leu159HisfsTer14
XM_024452148.1:c.1169_1170del XP_024307916.1:p.Leu390HisfsTer14
XM_024452149.1:c.1082_1083del XP_024307917.1:p.Leu361HisfsTer14
XR_937805.2:n.1309_1310del
XR_937806.2:n.1222_1223del
NM_001005735.2:c.1268_1269del NP_001005735.1:p.Leu423HisfsTer14
NM_001257387.2:c.476_477del NP_001244316.1:p.Leu159HisfsTer14
NM_001349956.2:c.938_939del NP_001336885.1:p.Leu313HisfsTer14