Canonical Allele Identifier: CA2400238250
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695735_28695760delinsTCCAGCAGTCCACAGCACGGTTATAC , CM000684.2:g.28695735_28695760delinsTCCAGCAGTCCACAGCACGGTTATAC GRCh38
NC_000022.10:g.29091723_29091748delinsTCCAGCAGTCCACAGCACGGTTATAC , CM000684.1:g.29091723_29091748delinsTCCAGCAGTCCACAGCACGGTTATAC GRCh37
NC_000022.9:g.27421723_27421748delinsTCCAGCAGTCCACAGCACGGTTATAC NCBI36
NG_008150.1:g.51075_51100delinsGTATAACCGTGCTGTGGACTGCTGGA
NG_008150.2:g.51107_51132delinsGTATAACCGTGCTGTGGACTGCTGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-518_1009-493delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000518557.1:n.1009-518_1009-493deli...
ENST00000402731.6:c.1008_1033delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000384835.2:p.Gly336=
ENST00000404276.6:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA MANE Select ENSP00000385747.1:p.Gly403=
ENST00000425190.7:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000390244.2:p.Gly182=
ENST00000464581.6:c.549_574delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000483777.2:p.Gly183=
ENST00000648295.1:n.761_786delinsGTATAACCGTGCTGTGGACTGCTGGA
ENST00000649563.1:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000496928.1:p.Gly182=
ENST00000650281.1:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000497000.1:p.Gly403=
ENST00000328354.10:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000329178.6:p.Gly403=
ENST00000348295.7:c.1122_1147delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000329012.5:p.Gly374=
ENST00000382580.6:c.1338_1363delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000372023.2:p.Gly446=
ENST00000402731.5:c.1122_1147delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000384835.1:p.Gly374=
ENST00000403642.5:c.936_961delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000384919.1:p.Gly312=
ENST00000404276.5:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000385747.1:p.Gly403=
ENST00000405598.5:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000386087.1:p.Gly403=
ENST00000416671.5:c.*699_*724delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000402225.1:n.*699_*724delinsGTATAA...
ENST00000417588.5:c.1118_1143delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000412901.1:n.1118_1143delinsGTATAA...
ENST00000433728.5:c.1147_1172delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000404400.1:n.1147_1172delinsGTATAA...
ENST00000434810.5:c.440_465delinsGTATAACCGTGCTGTGGACTGCTGGA
ENST00000448511.5:c.1099_1124delinsGTATAACCGTGCTGTGGACTGCTGGA ENSP00000404567.1:n.1099_1124delinsGTATAA...
ENST00000456369.5:c.263+4078_263+4103delinsGTATAACCGTGCTGTGGACTGCTGGA
NM_001005735.1:c.1338_1363delinsGTATAACCGTGCTGTGGACTGCTGGA NP_001005735.1:p.Gly446=
NM_001257387.1:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA NP_001244316.1:p.Gly182=
NM_007194.3:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA NP_009125.1:p.Gly403=
NM_145862.2:c.1122_1147delinsGTATAACCGTGCTGTGGACTGCTGGA NP_665861.1:p.Gly374=
XM_006724114.2:c.729_754delinsGTATAACCGTGCTGTGGACTGCTGGA XP_006724177.1:p.Gly243=
XM_006724116.2:c.666_691delinsGTATAACCGTGCTGTGGACTGCTGGA XP_006724179.2:p.Gly222=
XM_011529839.1:c.1368_1393delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528141.1:p.Gly456=
XM_011529840.1:c.1281_1306delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528142.1:p.Gly427=
XM_011529841.1:c.1137_1162delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528143.1:p.Gly379=
XM_011529842.1:c.1038_1063delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528144.1:p.Gly346=
XM_011529843.1:c.1008_1033delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528145.1:p.Gly336=
XM_011529845.1:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528147.1:p.Gly182=
XR_937805.1:n.1368_1393delinsGTATAACCGTGCTGTGGACTGCTGGA
NM_001349956.1:c.1008_1033delinsGTATAACCGTGCTGTGGACTGCTGGA NP_001336885.1:p.Gly336=
NM_007194.4:c.1209_1234delinsGTATAACCGTGCTGTGGACTGCTGGA MANE Select NP_009125.1:p.Gly403=
XM_006724114.3:c.762_787delinsGTATAACCGTGCTGTGGACTGCTGGA XP_006724177.2:p.Gly254=
XM_011529839.2:c.1368_1393delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528141.1:p.Gly456=
XM_011529840.3:c.1281_1306delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528142.1:p.Gly427=
XM_011529842.2:c.1038_1063delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528144.1:p.Gly346=
XM_011529845.2:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA XP_011528147.1:p.Gly182=
XM_017028560.1:c.1332_1357delinsGTATAACCGTGCTGTGGACTGCTGGA XP_016884049.1:p.Gly444=
XM_017028561.2:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA XP_016884050.1:p.Gly182=
XM_024452148.1:c.1239_1264delinsGTATAACCGTGCTGTGGACTGCTGGA XP_024307916.1:p.Gly413=
XM_024452149.1:c.1152_1177delinsGTATAACCGTGCTGTGGACTGCTGGA XP_024307917.1:p.Gly384=
XR_937805.2:n.1379_1404delinsGTATAACCGTGCTGTGGACTGCTGGA
NM_001005735.2:c.1338_1363delinsGTATAACCGTGCTGTGGACTGCTGGA NP_001005735.1:p.Gly446=
NM_001257387.2:c.546_571delinsGTATAACCGTGCTGTGGACTGCTGGA NP_001244316.1:p.Gly182=
NM_001349956.2:c.1008_1033delinsGTATAACCGTGCTGTGGACTGCTGGA NP_001336885.1:p.Gly336=