Canonical Allele Identifier: CA2400238950
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28697152_28697155delinsTTTG , CM000684.2:g.28697152_28697155delinsTTTG GRCh38
NC_000022.10:g.29093140_29093143delinsTTTG , CM000684.1:g.29093140_29093143delinsTTTG GRCh37
NC_000022.9:g.27423140_27423143delinsTTTG NCBI36
NG_008150.1:g.49680_49683delinsCAAA
NG_008150.2:g.49712_49715delinsCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1913_1009-1910delinsCAAA ENSP00000518557.1:n.1009-1913_1009-1910delinsCAAA
ENST00000402731.6:c.808-168_808-165delinsCAAA ENSP00000384835.2:n.808-168_808-165delinsCAAA
ENST00000404276.6:c.1009-168_1009-165delinsCAAA MANE Select ENSP00000385747.1:n.1009-168_1009-165delinsCAAA
ENST00000425190.7:c.346-168_346-165delinsCAAA ENSP00000390244.2:n.346-168_346-165delinsCAAA
ENST00000464581.6:c.349-168_349-165delinsCAAA ENSP00000483777.2:n.349-168_349-165delinsCAAA
ENST00000648295.1:n.561-168_561-165delinsCAAA
ENST00000649563.1:c.346-168_346-165delinsCAAA ENSP00000496928.1:n.346-168_346-165delinsCAAA
ENST00000650281.1:c.1009-168_1009-165delinsCAAA ENSP00000497000.1:n.1009-168_1009-165delinsCAAA
ENST00000328354.10:c.1009-168_1009-165delinsCAAA ENSP00000329178.6:n.1009-168_1009-165delinsCAAA
ENST00000348295.7:c.1009-1282_1009-1279delinsCAAA ENSP00000329012.5:n.1009-1282_1009-1279delinsCAAA
ENST00000382580.6:c.1138-168_1138-165delinsCAAA ENSP00000372023.2:n.1138-168_1138-165delinsCAAA
ENST00000402731.5:c.1009-1282_1009-1279delinsCAAA ENSP00000384835.1:n.1009-1282_1009-1279delinsCAAA
ENST00000403642.5:c.736-168_736-165delinsCAAA ENSP00000384919.1:n.736-168_736-165delinsCAAA
ENST00000404276.5:c.1009-168_1009-165delinsCAAA ENSP00000385747.1:n.1009-168_1009-165delinsCAAA
ENST00000405598.5:c.1009-168_1009-165delinsCAAA ENSP00000386087.1:n.1009-168_1009-165delinsCAAA
ENST00000416671.5:c.*499-168_*499-165delinsCAAA ENSP00000402225.1:n.*499-168_*499-165delinsCAAA
ENST00000417588.5:c.918-168_918-165delinsCAAA ENSP00000412901.1:n.918-168_918-165delinsCAAA
ENST00000425190.6:c.346-168_346-165delinsCAAA ENSP00000390244.1:n.346-168_346-165delinsCAAA
ENST00000433028.6:c.*734-168_*734-165delinsCAAA ENSP00000403659.1:n.*734-168_*734-165delinsCAAA
ENST00000433728.5:c.947-168_947-165delinsCAAA ENSP00000404400.1:n.947-168_947-165delinsCAAA
ENST00000434810.5:c.240-168_240-165delinsCAAA
ENST00000447421.5:c.808-168_808-165delinsCAAA ENSP00000397478.2:n.808-168_808-165delinsCAAA
ENST00000448511.5:c.899-168_899-165delinsCAAA ENSP00000404567.1:n.899-168_899-165delinsCAAA
ENST00000456369.5:c.263+2683_263+2686delinsCAAA
ENST00000464581.5:c.349-168_349-165delinsCAAA ENSP00000483777.1:n.349-168_349-165delinsCAAA
ENST00000491919.5:n.566-168_566-165delinsCAAA
NM_001005735.1:c.1138-168_1138-165delinsCAAA NP_001005735.1:n.1138-168_1138-165delinsCAAA
NM_001257387.1:c.346-168_346-165delinsCAAA NP_001244316.1:n.346-168_346-165delinsCAAA
NM_007194.3:c.1009-168_1009-165delinsCAAA NP_009125.1:n.1009-168_1009-165delinsCAAA
NM_145862.2:c.1009-1282_1009-1279delinsCAAA NP_665861.1:n.1009-1282_1009-1279delinsCAAA
XM_006724114.2:c.529-168_529-165delinsCAAA XP_006724177.1:n.529-168_529-165delinsCAAA
XM_006724116.2:c.466-168_466-165delinsCAAA XP_006724179.2:n.466-168_466-165delinsCAAA
XM_011529839.1:c.1168-168_1168-165delinsCAAA XP_011528141.1:n.1168-168_1168-165delinsCAAA
XM_011529840.1:c.1168-1282_1168-1279delinsCAAA XP_011528142.1:n.1168-1282_1168-1279delinsCAAA
XM_011529841.1:c.937-168_937-165delinsCAAA XP_011528143.1:n.937-168_937-165delinsCAAA
XM_011529842.1:c.838-168_838-165delinsCAAA XP_011528144.1:n.838-168_838-165delinsCAAA
XM_011529843.1:c.808-168_808-165delinsCAAA XP_011528145.1:n.808-168_808-165delinsCAAA
XM_011529844.1:c.1168-26_1168-23delinsCAAA XP_011528146.1:n.1168-26_1168-23delinsCAAA
XM_011529845.1:c.346-168_346-165delinsCAAA XP_011528147.1:n.346-168_346-165delinsCAAA
XR_937805.1:n.1168-168_1168-165delinsCAAA
XR_937806.1:n.1163-1282_1163-1279delinsCAAA
XR_937807.1:n.1163-26_1163-23delinsCAAA
NM_001349956.1:c.808-168_808-165delinsCAAA NP_001336885.1:n.808-168_808-165delinsCAAA
NM_007194.4:c.1009-168_1009-165delinsCAAA MANE Select NP_009125.1:n.1009-168_1009-165delinsCAAA
XM_006724114.3:c.562-168_562-165delinsCAAA XP_006724177.2:n.562-168_562-165delinsCAAA
XM_011529839.2:c.1168-168_1168-165delinsCAAA XP_011528141.1:n.1168-168_1168-165delinsCAAA
XM_011529840.3:c.1168-1282_1168-1279delinsCAAA XP_011528142.1:n.1168-1282_1168-1279delinsCAAA
XM_011529842.2:c.838-168_838-165delinsCAAA XP_011528144.1:n.838-168_838-165delinsCAAA
XM_011529844.2:c.1168-26_1168-23delinsCAAA XP_011528146.1:n.1168-26_1168-23delinsCAAA
XM_011529845.2:c.346-168_346-165delinsCAAA XP_011528147.1:n.346-168_346-165delinsCAAA
XM_017028560.1:c.1132-168_1132-165delinsCAAA XP_016884049.1:n.1132-168_1132-165delinsCAAA
XM_017028561.2:c.346-168_346-165delinsCAAA XP_016884050.1:n.346-168_346-165delinsCAAA
XM_024452148.1:c.1039-168_1039-165delinsCAAA XP_024307916.1:n.1039-168_1039-165delinsCAAA
XM_024452149.1:c.1039-1282_1039-1279delinsCAAA XP_024307917.1:n.1039-1282_1039-1279delinsCAAA
XR_937805.2:n.1179-168_1179-165delinsCAAA
XR_937806.2:n.1179-1282_1179-1279delinsCAAA
XR_937807.2:n.1179-26_1179-23delinsCAAA
NM_001005735.2:c.1138-168_1138-165delinsCAAA NP_001005735.1:n.1138-168_1138-165delinsCAAA
NM_001257387.2:c.346-168_346-165delinsCAAA NP_001244316.1:n.346-168_346-165delinsCAAA
NM_001349956.2:c.808-168_808-165delinsCAAA NP_001336885.1:n.808-168_808-165delinsCAAA