Canonical Allele Identifier: CA2400238328

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695826_28695836delinsCATGAGAGAGG , CM000684.2:g.28695826_28695836delinsCATGAGAGAGG	GRCh38
NC_000022.10:g.29091814_29091824delinsCATGAGAGAGG , CM000684.1:g.29091814_29091824delinsCATGAGAGAGG	GRCh37
NC_000022.9:g.27421814_27421824delinsCATGAGAGAGG	NCBI36
NG_008150.1:g.50999_51009delinsCCTCTCTCATG
NG_008150.2:g.51031_51041delinsCCTCTCTCATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-594_1009-584delinsCCTCTCTCATG	ENSP00000518557.1:n.1009-594_1009-584delinsCCTCTCTCATG
ENST00000402731.6:c.932_942delinsCCTCTCTCATG	ENSP00000384835.2:p.Thr311=
ENST00000404276.6:c.1133_1143delinsCCTCTCTCATG MANE Select	ENSP00000385747.1:p.Thr378=
ENST00000425190.7:c.470_480delinsCCTCTCTCATG	ENSP00000390244.2:p.Thr157=
ENST00000464581.6:c.473_483delinsCCTCTCTCATG	ENSP00000483777.2:p.Thr158=
ENST00000648295.1:n.685_695delinsCCTCTCTCATG
ENST00000649563.1:c.470_480delinsCCTCTCTCATG	ENSP00000496928.1:p.Thr157=
ENST00000650281.1:c.1133_1143delinsCCTCTCTCATG	ENSP00000497000.1:p.Thr378=
ENST00000328354.10:c.1133_1143delinsCCTCTCTCATG	ENSP00000329178.6:p.Thr378=
ENST00000348295.7:c.1046_1056delinsCCTCTCTCATG	ENSP00000329012.5:p.Thr349=
ENST00000382580.6:c.1262_1272delinsCCTCTCTCATG	ENSP00000372023.2:p.Thr421=
ENST00000402731.5:c.1046_1056delinsCCTCTCTCATG	ENSP00000384835.1:p.Thr349=
ENST00000403642.5:c.860_870delinsCCTCTCTCATG	ENSP00000384919.1:p.Thr287=
ENST00000404276.5:c.1133_1143delinsCCTCTCTCATG	ENSP00000385747.1:p.Thr378=
ENST00000405598.5:c.1133_1143delinsCCTCTCTCATG	ENSP00000386087.1:p.Thr378=
ENST00000416671.5:c.*623_*633delinsCCTCTCTCATG	ENSP00000402225.1:n.*623_*633delinsCCTCTCTCATG
ENST00000417588.5:c.1042_1052delinsCCTCTCTCATG	ENSP00000412901.1:n.1042_1052delinsCCTCTCTCATG
ENST00000433728.5:c.1071_1081delinsCCTCTCTCATG	ENSP00000404400.1:n.1071_1081delinsCCTCTCTCATG
ENST00000434810.5:c.364_374delinsCCTCTCTCATG
ENST00000448511.5:c.1023_1033delinsCCTCTCTCATG	ENSP00000404567.1:n.1023_1033delinsCCTCTCTCATG
ENST00000456369.5:c.263+4002_263+4012delinsCCTCTCTCATG
NM_001005735.1:c.1262_1272delinsCCTCTCTCATG	NP_001005735.1:p.Thr421=
NM_001257387.1:c.470_480delinsCCTCTCTCATG	NP_001244316.1:p.Thr157=
NM_007194.3:c.1133_1143delinsCCTCTCTCATG	NP_009125.1:p.Thr378=
NM_145862.2:c.1046_1056delinsCCTCTCTCATG	NP_665861.1:p.Thr349=
XM_006724114.2:c.653_663delinsCCTCTCTCATG	XP_006724177.1:p.Thr218=
XM_006724116.2:c.590_600delinsCCTCTCTCATG	XP_006724179.2:p.Thr197=
XM_011529839.1:c.1292_1302delinsCCTCTCTCATG	XP_011528141.1:p.Thr431=
XM_011529840.1:c.1205_1215delinsCCTCTCTCATG	XP_011528142.1:p.Thr402=
XM_011529841.1:c.1061_1071delinsCCTCTCTCATG	XP_011528143.1:p.Thr354=
XM_011529842.1:c.962_972delinsCCTCTCTCATG	XP_011528144.1:p.Thr321=
XM_011529843.1:c.932_942delinsCCTCTCTCATG	XP_011528145.1:p.Thr311=
XM_011529845.1:c.470_480delinsCCTCTCTCATG	XP_011528147.1:p.Thr157=
XR_937805.1:n.1292_1302delinsCCTCTCTCATG
XR_937806.1:n.1200_1210delinsCCTCTCTCATG
NM_001349956.1:c.932_942delinsCCTCTCTCATG	NP_001336885.1:p.Thr311=
NM_007194.4:c.1133_1143delinsCCTCTCTCATG MANE Select	NP_009125.1:p.Thr378=
XM_006724114.3:c.686_696delinsCCTCTCTCATG	XP_006724177.2:p.Thr229=
XM_011529839.2:c.1292_1302delinsCCTCTCTCATG	XP_011528141.1:p.Thr431=
XM_011529840.3:c.1205_1215delinsCCTCTCTCATG	XP_011528142.1:p.Thr402=
XM_011529842.2:c.962_972delinsCCTCTCTCATG	XP_011528144.1:p.Thr321=
XM_011529845.2:c.470_480delinsCCTCTCTCATG	XP_011528147.1:p.Thr157=
XM_017028560.1:c.1256_1266delinsCCTCTCTCATG	XP_016884049.1:p.Thr419=
XM_017028561.2:c.470_480delinsCCTCTCTCATG	XP_016884050.1:p.Thr157=
XM_024452148.1:c.1163_1173delinsCCTCTCTCATG	XP_024307916.1:p.Thr388=
XM_024452149.1:c.1076_1086delinsCCTCTCTCATG	XP_024307917.1:p.Thr359=
XR_937805.2:n.1303_1313delinsCCTCTCTCATG
XR_937806.2:n.1216_1226delinsCCTCTCTCATG
NM_001005735.2:c.1262_1272delinsCCTCTCTCATG	NP_001005735.1:p.Thr421=
NM_001257387.2:c.470_480delinsCCTCTCTCATG	NP_001244316.1:p.Thr157=
NM_001349956.2:c.932_942delinsCCTCTCTCATG	NP_001336885.1:p.Thr311=