Canonical Allele Identifier: CA2400238308

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695804_28695805delinsTG , CM000684.2:g.28695804_28695805delinsTG	GRCh38
NC_000022.10:g.29091792_29091793delinsTG , CM000684.1:g.29091792_29091793delinsTG	GRCh37
NC_000022.9:g.27421792_27421793delinsTG	NCBI36
NG_008150.1:g.51030_51031delinsCA
NG_008150.2:g.51062_51063delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-563_1009-562delinsCA	ENSP00000518557.1:n.1009-563_1009-562delinsCA
ENST00000402731.6:c.963_964delinsCA	ENSP00000384835.2:p.Pro321=
ENST00000404276.6:c.1164_1165delinsCA MANE Select	ENSP00000385747.1:p.Pro388=
ENST00000425190.7:c.501_502delinsCA	ENSP00000390244.2:p.Pro167=
ENST00000464581.6:c.504_505delinsCA	ENSP00000483777.2:p.Pro168=
ENST00000648295.1:n.716_717delinsCA
ENST00000649563.1:c.501_502delinsCA	ENSP00000496928.1:p.Pro167=
ENST00000650281.1:c.1164_1165delinsCA	ENSP00000497000.1:p.Pro388=
ENST00000328354.10:c.1164_1165delinsCA	ENSP00000329178.6:p.Pro388=
ENST00000348295.7:c.1077_1078delinsCA	ENSP00000329012.5:p.Pro359=
ENST00000382580.6:c.1293_1294delinsCA	ENSP00000372023.2:p.Pro431=
ENST00000402731.5:c.1077_1078delinsCA	ENSP00000384835.1:p.Pro359=
ENST00000403642.5:c.891_892delinsCA	ENSP00000384919.1:p.Pro297=
ENST00000404276.5:c.1164_1165delinsCA	ENSP00000385747.1:p.Pro388=
ENST00000405598.5:c.1164_1165delinsCA	ENSP00000386087.1:p.Pro388=
ENST00000416671.5:c.*654_*655delinsCA	ENSP00000402225.1:n.*654_*655delinsCA
ENST00000417588.5:c.1073_1074delinsCA	ENSP00000412901.1:n.1073_1074delinsCA
ENST00000433728.5:c.1102_1103delinsCA	ENSP00000404400.1:n.1102_1103delinsCA
ENST00000434810.5:c.395_396delinsCA
ENST00000448511.5:c.1054_1055delinsCA	ENSP00000404567.1:n.1054_1055delinsCA
ENST00000456369.5:c.263+4033_263+4034delinsCA
NM_001005735.1:c.1293_1294delinsCA	NP_001005735.1:p.Pro431=
NM_001257387.1:c.501_502delinsCA	NP_001244316.1:p.Pro167=
NM_007194.3:c.1164_1165delinsCA	NP_009125.1:p.Pro388=
NM_145862.2:c.1077_1078delinsCA	NP_665861.1:p.Pro359=
XM_006724114.2:c.684_685delinsCA	XP_006724177.1:p.Pro228=
XM_006724116.2:c.621_622delinsCA	XP_006724179.2:p.Pro207=
XM_011529839.1:c.1323_1324delinsCA	XP_011528141.1:p.Pro441=
XM_011529840.1:c.1236_1237delinsCA	XP_011528142.1:p.Pro412=
XM_011529841.1:c.1092_1093delinsCA	XP_011528143.1:p.Pro364=
XM_011529842.1:c.993_994delinsCA	XP_011528144.1:p.Pro331=
XM_011529843.1:c.963_964delinsCA	XP_011528145.1:p.Pro321=
XM_011529845.1:c.501_502delinsCA	XP_011528147.1:p.Pro167=
XR_937805.1:n.1323_1324delinsCA
XR_937806.1:n.1231_1232delinsCA
NM_001349956.1:c.963_964delinsCA	NP_001336885.1:p.Pro321=
NM_007194.4:c.1164_1165delinsCA MANE Select	NP_009125.1:p.Pro388=
XM_006724114.3:c.717_718delinsCA	XP_006724177.2:p.Pro239=
XM_011529839.2:c.1323_1324delinsCA	XP_011528141.1:p.Pro441=
XM_011529840.3:c.1236_1237delinsCA	XP_011528142.1:p.Pro412=
XM_011529842.2:c.993_994delinsCA	XP_011528144.1:p.Pro331=
XM_011529845.2:c.501_502delinsCA	XP_011528147.1:p.Pro167=
XM_017028560.1:c.1287_1288delinsCA	XP_016884049.1:p.Pro429=
XM_017028561.2:c.501_502delinsCA	XP_016884050.1:p.Pro167=
XM_024452148.1:c.1194_1195delinsCA	XP_024307916.1:p.Pro398=
XM_024452149.1:c.1107_1108delinsCA	XP_024307917.1:p.Pro369=
XR_937805.2:n.1334_1335delinsCA
XR_937806.2:n.1247_1248delinsCA
NM_001005735.2:c.1293_1294delinsCA	NP_001005735.1:p.Pro431=
NM_001257387.2:c.501_502delinsCA	NP_001244316.1:p.Pro167=
NM_001349956.2:c.963_964delinsCA	NP_001336885.1:p.Pro321=