Canonical Allele Identifier: CA2740090120

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695734_28695758del , CM000684.2:g.28695734_28695758del	GRCh38
NC_000022.10:g.29091722_29091746del , CM000684.1:g.29091722_29091746del	GRCh37
NC_000022.9:g.27421722_27421746del	NCBI36
NG_008150.1:g.51077_51101del
NG_008150.2:g.51109_51133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-516_1009-492del	ENSP00000518557.1:n.1009-516_1009-492del
ENST00000402731.6:c.1010_1034del	ENSP00000384835.2:p.Tyr337PhefsTer2
ENST00000404276.6:c.1211_1235del MANE Select	ENSP00000385747.1:p.Tyr404PhefsTer2
ENST00000425190.7:c.548_572del	ENSP00000390244.2:p.Tyr183PhefsTer2
ENST00000464581.6:c.551_575del	ENSP00000483777.2:p.Tyr184PhefsTer2
ENST00000648295.1:n.763_787del
ENST00000649563.1:c.548_572del	ENSP00000496928.1:p.Tyr183PhefsTer2
ENST00000650281.1:c.1211_1235del	ENSP00000497000.1:p.Tyr404PhefsTer2
ENST00000328354.10:c.1211_1235del	ENSP00000329178.6:p.Tyr404PhefsTer2
ENST00000348295.7:c.1124_1148del	ENSP00000329012.5:p.Tyr375PhefsTer2
ENST00000382580.6:c.1340_1364del	ENSP00000372023.2:p.Tyr447PhefsTer2
ENST00000402731.5:c.1124_1148del	ENSP00000384835.1:p.Tyr375PhefsTer2
ENST00000403642.5:c.938_962del	ENSP00000384919.1:p.Tyr313PhefsTer2
ENST00000404276.5:c.1211_1235del	ENSP00000385747.1:p.Tyr404PhefsTer2
ENST00000405598.5:c.1211_1235del	ENSP00000386087.1:p.Tyr404PhefsTer2
ENST00000416671.5:c.*701_*725del	ENSP00000402225.1:n.*701_*725del
ENST00000417588.5:c.1120_1144del	ENSP00000412901.1:n.1120_1144del
ENST00000433728.5:c.1149_1173del	ENSP00000404400.1:n.1149_1173del
ENST00000434810.5:c.442_466del
ENST00000448511.5:c.1101_1125del	ENSP00000404567.1:n.1101_1125del
ENST00000456369.5:c.263+4080_263+4104del
NM_001005735.1:c.1340_1364del	NP_001005735.1:p.Tyr447PhefsTer2
NM_001257387.1:c.548_572del	NP_001244316.1:p.Tyr183PhefsTer2
NM_007194.3:c.1211_1235del	NP_009125.1:p.Tyr404PhefsTer2
NM_145862.2:c.1124_1148del	NP_665861.1:p.Tyr375PhefsTer2
XM_006724114.2:c.731_755del	XP_006724177.1:p.Tyr244PhefsTer2
XM_006724116.2:c.668_692del	XP_006724179.2:p.Tyr223PhefsTer2
XM_011529839.1:c.1370_1394del	XP_011528141.1:p.Tyr457PhefsTer2
XM_011529840.1:c.1283_1307del	XP_011528142.1:p.Tyr428PhefsTer2
XM_011529841.1:c.1139_1163del	XP_011528143.1:p.Tyr380PhefsTer2
XM_011529842.1:c.1040_1064del	XP_011528144.1:p.Tyr347PhefsTer2
XM_011529843.1:c.1010_1034del	XP_011528145.1:p.Tyr337PhefsTer2
XM_011529845.1:c.548_572del	XP_011528147.1:p.Tyr183PhefsTer2
XR_937805.1:n.1370_1394del
NM_001349956.1:c.1010_1034del	NP_001336885.1:p.Tyr337PhefsTer2
NM_007194.4:c.1211_1235del MANE Select	NP_009125.1:p.Tyr404PhefsTer2
XM_006724114.3:c.764_788del	XP_006724177.2:p.Tyr255PhefsTer2
XM_011529839.2:c.1370_1394del	XP_011528141.1:p.Tyr457PhefsTer2
XM_011529840.3:c.1283_1307del	XP_011528142.1:p.Tyr428PhefsTer2
XM_011529842.2:c.1040_1064del	XP_011528144.1:p.Tyr347PhefsTer2
XM_011529845.2:c.548_572del	XP_011528147.1:p.Tyr183PhefsTer2
XM_017028560.1:c.1334_1358del	XP_016884049.1:p.Tyr445PhefsTer2
XM_017028561.2:c.548_572del	XP_016884050.1:p.Tyr183PhefsTer2
XM_024452148.1:c.1241_1265del	XP_024307916.1:p.Tyr414PhefsTer2
XM_024452149.1:c.1154_1178del	XP_024307917.1:p.Tyr385PhefsTer2
XR_937805.2:n.1381_1405del
NM_001005735.2:c.1340_1364del	NP_001005735.1:p.Tyr447PhefsTer2
NM_001257387.2:c.548_572del	NP_001244316.1:p.Tyr183PhefsTer2
NM_001349956.2:c.1010_1034del	NP_001336885.1:p.Tyr337PhefsTer2