Canonical Allele Identifier: CA2577675947

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696964_28696966del , CM000684.2:g.28696964_28696966del	GRCh38
NC_000022.10:g.29092952_29092954del , CM000684.1:g.29092952_29092954del	GRCh37
NC_000022.9:g.27422952_27422954del	NCBI36
NG_008150.1:g.49869_49871del
NG_008150.2:g.49901_49903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-1724_1009-1722del	ENSP00000518557.1:n.1009-1724_1009-1722del
ENST00000402731.6:c.829_831del	ENSP00000384835.2:p.Ile277del
ENST00000404276.6:c.1030_1032del MANE Select	ENSP00000385747.1:p.Ile344del
ENST00000425190.7:c.367_369del	ENSP00000390244.2:p.Ile123del
ENST00000464581.6:c.370_372del	ENSP00000483777.2:p.Ile124del
ENST00000648295.1:n.582_584del
ENST00000649563.1:c.367_369del	ENSP00000496928.1:p.Ile123del
ENST00000650281.1:c.1030_1032del	ENSP00000497000.1:p.Ile344del
ENST00000328354.10:c.1030_1032del	ENSP00000329178.6:p.Ile344del
ENST00000348295.7:c.1009-1093_1009-1091del	ENSP00000329012.5:n.1009-1093_1009-1091del
ENST00000382580.6:c.1159_1161del	ENSP00000372023.2:p.Ile387del
ENST00000402731.5:c.1009-1093_1009-1091del	ENSP00000384835.1:n.1009-1093_1009-1091del
ENST00000403642.5:c.757_759del	ENSP00000384919.1:p.Ile253del
ENST00000404276.5:c.1030_1032del	ENSP00000385747.1:p.Ile344del
ENST00000405598.5:c.1030_1032del	ENSP00000386087.1:p.Ile344del
ENST00000416671.5:c.*520_*522del	ENSP00000402225.1:n.*520_*522del
ENST00000417588.5:c.939_941del	ENSP00000412901.1:n.939_941del
ENST00000433028.6:c.*755_*757del	ENSP00000403659.1:n.*755_*757del
ENST00000433728.5:c.968_970del	ENSP00000404400.1:n.968_970del
ENST00000434810.5:c.261_263del
ENST00000447421.5:c.829_831del	ENSP00000397478.2:p.Ile277del
ENST00000448511.5:c.920_922del	ENSP00000404567.1:n.920_922del
ENST00000456369.5:c.263+2872_263+2874del
ENST00000464581.5:c.370_372del	ENSP00000483777.1:p.Ile124del
ENST00000491919.5:n.587_589del
NM_001005735.1:c.1159_1161del	NP_001005735.1:p.Ile387del
NM_001257387.1:c.367_369del	NP_001244316.1:p.Ile123del
NM_007194.3:c.1030_1032del	NP_009125.1:p.Ile344del
NM_145862.2:c.1009-1093_1009-1091del	NP_665861.1:n.1009-1093_1009-1091del
XM_006724114.2:c.550_552del	XP_006724177.1:p.Ile184del
XM_006724116.2:c.487_489del	XP_006724179.2:p.Ile163del
XM_011529839.1:c.1189_1191del	XP_011528141.1:p.Ile397del
XM_011529840.1:c.1168-1093_1168-1091del	XP_011528142.1:n.1168-1093_1168-1091del
XM_011529841.1:c.958_960del	XP_011528143.1:p.Ile320del
XM_011529842.1:c.859_861del	XP_011528144.1:p.Ile287del
XM_011529843.1:c.829_831del	XP_011528145.1:p.Ile277del
XM_011529845.1:c.367_369del	XP_011528147.1:p.Ile123del
XR_937805.1:n.1189_1191del
XR_937806.1:n.1163-1093_1163-1091del
NM_001349956.1:c.829_831del	NP_001336885.1:p.Ile277del
NM_007194.4:c.1030_1032del MANE Select	NP_009125.1:p.Ile344del
XM_006724114.3:c.583_585del	XP_006724177.2:p.Ile195del
XM_011529839.2:c.1189_1191del	XP_011528141.1:p.Ile397del
XM_011529840.3:c.1168-1093_1168-1091del	XP_011528142.1:n.1168-1093_1168-1091del
XM_011529842.2:c.859_861del	XP_011528144.1:p.Ile287del
XM_011529845.2:c.367_369del	XP_011528147.1:p.Ile123del
XM_017028560.1:c.1153_1155del	XP_016884049.1:p.Ile385del
XM_017028561.2:c.367_369del	XP_016884050.1:p.Ile123del
XM_024452148.1:c.1060_1062del	XP_024307916.1:p.Ile354del
XM_024452149.1:c.1039-1093_1039-1091del	XP_024307917.1:n.1039-1093_1039-1091del
XR_937805.2:n.1200_1202del
XR_937806.2:n.1179-1093_1179-1091del
NM_001005735.2:c.1159_1161del	NP_001005735.1:p.Ile387del
NM_001257387.2:c.367_369del	NP_001244316.1:p.Ile123del
NM_001349956.2:c.829_831del	NP_001336885.1:p.Ile277del