Canonical Allele Identifier: CA2400238262

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695749_28695759delinsGCACGGTTATA , CM000684.2:g.28695749_28695759delinsGCACGGTTATA	GRCh38
NC_000022.10:g.29091737_29091747delinsGCACGGTTATA , CM000684.1:g.29091737_29091747delinsGCACGGTTATA	GRCh37
NC_000022.9:g.27421737_27421747delinsGCACGGTTATA	NCBI36
NG_008150.1:g.51076_51086delinsTATAACCGTGC
NG_008150.2:g.51108_51118delinsTATAACCGTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-517_1009-507delinsTATAACCGTGC	ENSP00000518557.1:n.1009-517_1009-507deli...
ENST00000402731.6:c.1009_1019delinsTATAACCGTGC	ENSP00000384835.2:p.Tyr337=
ENST00000404276.6:c.1210_1220delinsTATAACCGTGC MANE Select	ENSP00000385747.1:p.Tyr404=
ENST00000425190.7:c.547_557delinsTATAACCGTGC	ENSP00000390244.2:p.Tyr183=
ENST00000464581.6:c.550_560delinsTATAACCGTGC	ENSP00000483777.2:p.Tyr184=
ENST00000648295.1:n.762_772delinsTATAACCGTGC
ENST00000649563.1:c.547_557delinsTATAACCGTGC	ENSP00000496928.1:p.Tyr183=
ENST00000650281.1:c.1210_1220delinsTATAACCGTGC	ENSP00000497000.1:p.Tyr404=
ENST00000328354.10:c.1210_1220delinsTATAACCGTGC	ENSP00000329178.6:p.Tyr404=
ENST00000348295.7:c.1123_1133delinsTATAACCGTGC	ENSP00000329012.5:p.Tyr375=
ENST00000382580.6:c.1339_1349delinsTATAACCGTGC	ENSP00000372023.2:p.Tyr447=
ENST00000402731.5:c.1123_1133delinsTATAACCGTGC	ENSP00000384835.1:p.Tyr375=
ENST00000403642.5:c.937_947delinsTATAACCGTGC	ENSP00000384919.1:p.Tyr313=
ENST00000404276.5:c.1210_1220delinsTATAACCGTGC	ENSP00000385747.1:p.Tyr404=
ENST00000405598.5:c.1210_1220delinsTATAACCGTGC	ENSP00000386087.1:p.Tyr404=
ENST00000416671.5:c.*700_*710delinsTATAACCGTGC	ENSP00000402225.1:n.*700_*710delinsTATAAC...
ENST00000417588.5:c.1119_1129delinsTATAACCGTGC	ENSP00000412901.1:n.1119_1129delinsTATAAC...
ENST00000433728.5:c.1148_1158delinsTATAACCGTGC	ENSP00000404400.1:n.1148_1158delinsTATAAC...
ENST00000434810.5:c.441_451delinsTATAACCGTGC
ENST00000448511.5:c.1100_1110delinsTATAACCGTGC	ENSP00000404567.1:n.1100_1110delinsTATAAC...
ENST00000456369.5:c.263+4079_263+4089delinsTATAACCGTGC
NM_001005735.1:c.1339_1349delinsTATAACCGTGC	NP_001005735.1:p.Tyr447=
NM_001257387.1:c.547_557delinsTATAACCGTGC	NP_001244316.1:p.Tyr183=
NM_007194.3:c.1210_1220delinsTATAACCGTGC	NP_009125.1:p.Tyr404=
NM_145862.2:c.1123_1133delinsTATAACCGTGC	NP_665861.1:p.Tyr375=
XM_006724114.2:c.730_740delinsTATAACCGTGC	XP_006724177.1:p.Tyr244=
XM_006724116.2:c.667_677delinsTATAACCGTGC	XP_006724179.2:p.Tyr223=
XM_011529839.1:c.1369_1379delinsTATAACCGTGC	XP_011528141.1:p.Tyr457=
XM_011529840.1:c.1282_1292delinsTATAACCGTGC	XP_011528142.1:p.Tyr428=
XM_011529841.1:c.1138_1148delinsTATAACCGTGC	XP_011528143.1:p.Tyr380=
XM_011529842.1:c.1039_1049delinsTATAACCGTGC	XP_011528144.1:p.Tyr347=
XM_011529843.1:c.1009_1019delinsTATAACCGTGC	XP_011528145.1:p.Tyr337=
XM_011529845.1:c.547_557delinsTATAACCGTGC	XP_011528147.1:p.Tyr183=
XR_937805.1:n.1369_1379delinsTATAACCGTGC
NM_001349956.1:c.1009_1019delinsTATAACCGTGC	NP_001336885.1:p.Tyr337=
NM_007194.4:c.1210_1220delinsTATAACCGTGC MANE Select	NP_009125.1:p.Tyr404=
XM_006724114.3:c.763_773delinsTATAACCGTGC	XP_006724177.2:p.Tyr255=
XM_011529839.2:c.1369_1379delinsTATAACCGTGC	XP_011528141.1:p.Tyr457=
XM_011529840.3:c.1282_1292delinsTATAACCGTGC	XP_011528142.1:p.Tyr428=
XM_011529842.2:c.1039_1049delinsTATAACCGTGC	XP_011528144.1:p.Tyr347=
XM_011529845.2:c.547_557delinsTATAACCGTGC	XP_011528147.1:p.Tyr183=
XM_017028560.1:c.1333_1343delinsTATAACCGTGC	XP_016884049.1:p.Tyr445=
XM_017028561.2:c.547_557delinsTATAACCGTGC	XP_016884050.1:p.Tyr183=
XM_024452148.1:c.1240_1250delinsTATAACCGTGC	XP_024307916.1:p.Tyr414=
XM_024452149.1:c.1153_1163delinsTATAACCGTGC	XP_024307917.1:p.Tyr385=
XR_937805.2:n.1380_1390delinsTATAACCGTGC
NM_001005735.2:c.1339_1349delinsTATAACCGTGC	NP_001005735.1:p.Tyr447=
NM_001257387.2:c.547_557delinsTATAACCGTGC	NP_001244316.1:p.Tyr183=
NM_001349956.2:c.1009_1019delinsTATAACCGTGC	NP_001336885.1:p.Tyr337=