Canonical Allele Identifier: CA2400239023
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28697329_28697330delinsAC , CM000684.2:g.28697329_28697330delinsAC GRCh38
NC_000022.10:g.29093317_29093318delinsAC , CM000684.1:g.29093317_29093318delinsAC GRCh37
NC_000022.9:g.27423317_27423318delinsAC NCBI36
NG_008150.1:g.49505_49506delinsGT
NG_008150.2:g.49537_49538delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-2088_1009-2087delinsGT ENSP00000518557.1:n.1009-2088_1009-2087delinsGT
ENST00000402731.6:c.808-343_808-342delinsGT ENSP00000384835.2:n.808-343_808-342delinsGT
ENST00000404276.6:c.1009-343_1009-342delinsGT MANE Select ENSP00000385747.1:n.1009-343_1009-342delinsGT
ENST00000425190.7:c.346-343_346-342delinsGT ENSP00000390244.2:n.346-343_346-342delinsGT
ENST00000464581.6:c.349-343_349-342delinsGT ENSP00000483777.2:n.349-343_349-342delinsGT
ENST00000648295.1:n.561-343_561-342delinsGT
ENST00000649563.1:c.346-343_346-342delinsGT ENSP00000496928.1:n.346-343_346-342delinsGT
ENST00000650281.1:c.1009-343_1009-342delinsGT ENSP00000497000.1:n.1009-343_1009-342delinsGT
ENST00000328354.10:c.1009-343_1009-342delinsGT ENSP00000329178.6:n.1009-343_1009-342delinsGT
ENST00000348295.7:c.1009-1457_1009-1456delinsGT ENSP00000329012.5:n.1009-1457_1009-1456delinsGT
ENST00000382580.6:c.1138-343_1138-342delinsGT ENSP00000372023.2:n.1138-343_1138-342delinsGT
ENST00000402731.5:c.1009-1457_1009-1456delinsGT ENSP00000384835.1:n.1009-1457_1009-1456delinsGT
ENST00000403642.5:c.736-343_736-342delinsGT ENSP00000384919.1:n.736-343_736-342delinsGT
ENST00000404276.5:c.1009-343_1009-342delinsGT ENSP00000385747.1:n.1009-343_1009-342delinsGT
ENST00000405598.5:c.1009-343_1009-342delinsGT ENSP00000386087.1:n.1009-343_1009-342delinsGT
ENST00000416671.5:c.*499-343_*499-342delinsGT ENSP00000402225.1:n.*499-343_*499-342delinsGT
ENST00000417588.5:c.918-343_918-342delinsGT ENSP00000412901.1:n.918-343_918-342delinsGT
ENST00000425190.6:c.346-343_346-342delinsGT ENSP00000390244.1:n.346-343_346-342delinsGT
ENST00000433028.6:c.*734-343_*734-342delinsGT ENSP00000403659.1:n.*734-343_*734-342delinsGT
ENST00000433728.5:c.947-343_947-342delinsGT ENSP00000404400.1:n.947-343_947-342delinsGT
ENST00000434810.5:c.240-343_240-342delinsGT
ENST00000447421.5:c.808-343_808-342delinsGT ENSP00000397478.2:n.808-343_808-342delinsGT
ENST00000448511.5:c.899-343_899-342delinsGT ENSP00000404567.1:n.899-343_899-342delinsGT
ENST00000456369.5:c.263+2508_263+2509delinsGT
ENST00000464581.5:c.349-343_349-342delinsGT ENSP00000483777.1:n.349-343_349-342delinsGT
ENST00000491919.5:n.566-343_566-342delinsGT
NM_001005735.1:c.1138-343_1138-342delinsGT NP_001005735.1:n.1138-343_1138-342delinsGT
NM_001257387.1:c.346-343_346-342delinsGT NP_001244316.1:n.346-343_346-342delinsGT
NM_007194.3:c.1009-343_1009-342delinsGT NP_009125.1:n.1009-343_1009-342delinsGT
NM_145862.2:c.1009-1457_1009-1456delinsGT NP_665861.1:n.1009-1457_1009-1456delinsGT
XM_006724114.2:c.529-343_529-342delinsGT XP_006724177.1:n.529-343_529-342delinsGT
XM_006724116.2:c.466-343_466-342delinsGT XP_006724179.2:n.466-343_466-342delinsGT
XM_011529839.1:c.1168-343_1168-342delinsGT XP_011528141.1:n.1168-343_1168-342delinsGT
XM_011529840.1:c.1168-1457_1168-1456delinsGT XP_011528142.1:n.1168-1457_1168-1456delinsGT
XM_011529841.1:c.937-343_937-342delinsGT XP_011528143.1:n.937-343_937-342delinsGT
XM_011529842.1:c.838-343_838-342delinsGT XP_011528144.1:n.838-343_838-342delinsGT
XM_011529843.1:c.808-343_808-342delinsGT XP_011528145.1:n.808-343_808-342delinsGT
XM_011529844.1:c.1168-201_1168-200delinsGT XP_011528146.1:n.1168-201_1168-200delinsGT
XM_011529845.1:c.346-343_346-342delinsGT XP_011528147.1:n.346-343_346-342delinsGT
XR_937805.1:n.1168-343_1168-342delinsGT
XR_937806.1:n.1163-1457_1163-1456delinsGT
XR_937807.1:n.1163-201_1163-200delinsGT
NM_001349956.1:c.808-343_808-342delinsGT NP_001336885.1:n.808-343_808-342delinsGT
NM_007194.4:c.1009-343_1009-342delinsGT MANE Select NP_009125.1:n.1009-343_1009-342delinsGT
XM_006724114.3:c.562-343_562-342delinsGT XP_006724177.2:n.562-343_562-342delinsGT
XM_011529839.2:c.1168-343_1168-342delinsGT XP_011528141.1:n.1168-343_1168-342delinsGT
XM_011529840.3:c.1168-1457_1168-1456delinsGT XP_011528142.1:n.1168-1457_1168-1456delinsGT
XM_011529842.2:c.838-343_838-342delinsGT XP_011528144.1:n.838-343_838-342delinsGT
XM_011529844.2:c.1168-201_1168-200delinsGT XP_011528146.1:n.1168-201_1168-200delinsGT
XM_011529845.2:c.346-343_346-342delinsGT XP_011528147.1:n.346-343_346-342delinsGT
XM_017028560.1:c.1132-343_1132-342delinsGT XP_016884049.1:n.1132-343_1132-342delinsGT
XM_017028561.2:c.346-343_346-342delinsGT XP_016884050.1:n.346-343_346-342delinsGT
XM_024452148.1:c.1039-343_1039-342delinsGT XP_024307916.1:n.1039-343_1039-342delinsGT
XM_024452149.1:c.1039-1457_1039-1456delinsGT XP_024307917.1:n.1039-1457_1039-1456delinsGT
XR_937805.2:n.1179-343_1179-342delinsGT
XR_937806.2:n.1179-1457_1179-1456delinsGT
XR_937807.2:n.1179-201_1179-200delinsGT
NM_001005735.2:c.1138-343_1138-342delinsGT NP_001005735.1:n.1138-343_1138-342delinsGT
NM_001257387.2:c.346-343_346-342delinsGT NP_001244316.1:n.346-343_346-342delinsGT
NM_001349956.2:c.808-343_808-342delinsGT NP_001336885.1:n.808-343_808-342delinsGT