Canonical Allele Identifier: CA2400238975
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28697210_28697211delinsAC , CM000684.2:g.28697210_28697211delinsAC GRCh38
NC_000022.10:g.29093198_29093199delinsAC , CM000684.1:g.29093198_29093199delinsAC GRCh37
NC_000022.9:g.27423198_27423199delinsAC NCBI36
NG_008150.1:g.49624_49625delinsGT
NG_008150.2:g.49656_49657delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1969_1009-1968delinsGT ENSP00000518557.1:n.1009-1969_1009-1968delinsGT
ENST00000402731.6:c.808-224_808-223delinsGT ENSP00000384835.2:n.808-224_808-223delinsGT
ENST00000404276.6:c.1009-224_1009-223delinsGT MANE Select ENSP00000385747.1:n.1009-224_1009-223delinsGT
ENST00000425190.7:c.346-224_346-223delinsGT ENSP00000390244.2:n.346-224_346-223delinsGT
ENST00000464581.6:c.349-224_349-223delinsGT ENSP00000483777.2:n.349-224_349-223delinsGT
ENST00000648295.1:n.561-224_561-223delinsGT
ENST00000649563.1:c.346-224_346-223delinsGT ENSP00000496928.1:n.346-224_346-223delinsGT
ENST00000650281.1:c.1009-224_1009-223delinsGT ENSP00000497000.1:n.1009-224_1009-223delinsGT
ENST00000328354.10:c.1009-224_1009-223delinsGT ENSP00000329178.6:n.1009-224_1009-223delinsGT
ENST00000348295.7:c.1009-1338_1009-1337delinsGT ENSP00000329012.5:n.1009-1338_1009-1337delinsGT
ENST00000382580.6:c.1138-224_1138-223delinsGT ENSP00000372023.2:n.1138-224_1138-223delinsGT
ENST00000402731.5:c.1009-1338_1009-1337delinsGT ENSP00000384835.1:n.1009-1338_1009-1337delinsGT
ENST00000403642.5:c.736-224_736-223delinsGT ENSP00000384919.1:n.736-224_736-223delinsGT
ENST00000404276.5:c.1009-224_1009-223delinsGT ENSP00000385747.1:n.1009-224_1009-223delinsGT
ENST00000405598.5:c.1009-224_1009-223delinsGT ENSP00000386087.1:n.1009-224_1009-223delinsGT
ENST00000416671.5:c.*499-224_*499-223delinsGT ENSP00000402225.1:n.*499-224_*499-223delinsGT
ENST00000417588.5:c.918-224_918-223delinsGT ENSP00000412901.1:n.918-224_918-223delinsGT
ENST00000425190.6:c.346-224_346-223delinsGT ENSP00000390244.1:n.346-224_346-223delinsGT
ENST00000433028.6:c.*734-224_*734-223delinsGT ENSP00000403659.1:n.*734-224_*734-223delinsGT
ENST00000433728.5:c.947-224_947-223delinsGT ENSP00000404400.1:n.947-224_947-223delinsGT
ENST00000434810.5:c.240-224_240-223delinsGT
ENST00000447421.5:c.808-224_808-223delinsGT ENSP00000397478.2:n.808-224_808-223delinsGT
ENST00000448511.5:c.899-224_899-223delinsGT ENSP00000404567.1:n.899-224_899-223delinsGT
ENST00000456369.5:c.263+2627_263+2628delinsGT
ENST00000464581.5:c.349-224_349-223delinsGT ENSP00000483777.1:n.349-224_349-223delinsGT
ENST00000491919.5:n.566-224_566-223delinsGT
NM_001005735.1:c.1138-224_1138-223delinsGT NP_001005735.1:n.1138-224_1138-223delinsGT
NM_001257387.1:c.346-224_346-223delinsGT NP_001244316.1:n.346-224_346-223delinsGT
NM_007194.3:c.1009-224_1009-223delinsGT NP_009125.1:n.1009-224_1009-223delinsGT
NM_145862.2:c.1009-1338_1009-1337delinsGT NP_665861.1:n.1009-1338_1009-1337delinsGT
XM_006724114.2:c.529-224_529-223delinsGT XP_006724177.1:n.529-224_529-223delinsGT
XM_006724116.2:c.466-224_466-223delinsGT XP_006724179.2:n.466-224_466-223delinsGT
XM_011529839.1:c.1168-224_1168-223delinsGT XP_011528141.1:n.1168-224_1168-223delinsGT
XM_011529840.1:c.1168-1338_1168-1337delinsGT XP_011528142.1:n.1168-1338_1168-1337delinsGT
XM_011529841.1:c.937-224_937-223delinsGT XP_011528143.1:n.937-224_937-223delinsGT
XM_011529842.1:c.838-224_838-223delinsGT XP_011528144.1:n.838-224_838-223delinsGT
XM_011529843.1:c.808-224_808-223delinsGT XP_011528145.1:n.808-224_808-223delinsGT
XM_011529844.1:c.1168-82_1168-81delinsGT XP_011528146.1:n.1168-82_1168-81delinsGT
XM_011529845.1:c.346-224_346-223delinsGT XP_011528147.1:n.346-224_346-223delinsGT
XR_937805.1:n.1168-224_1168-223delinsGT
XR_937806.1:n.1163-1338_1163-1337delinsGT
XR_937807.1:n.1163-82_1163-81delinsGT
NM_001349956.1:c.808-224_808-223delinsGT NP_001336885.1:n.808-224_808-223delinsGT
NM_007194.4:c.1009-224_1009-223delinsGT MANE Select NP_009125.1:n.1009-224_1009-223delinsGT
XM_006724114.3:c.562-224_562-223delinsGT XP_006724177.2:n.562-224_562-223delinsGT
XM_011529839.2:c.1168-224_1168-223delinsGT XP_011528141.1:n.1168-224_1168-223delinsGT
XM_011529840.3:c.1168-1338_1168-1337delinsGT XP_011528142.1:n.1168-1338_1168-1337delinsGT
XM_011529842.2:c.838-224_838-223delinsGT XP_011528144.1:n.838-224_838-223delinsGT
XM_011529844.2:c.1168-82_1168-81delinsGT XP_011528146.1:n.1168-82_1168-81delinsGT
XM_011529845.2:c.346-224_346-223delinsGT XP_011528147.1:n.346-224_346-223delinsGT
XM_017028560.1:c.1132-224_1132-223delinsGT XP_016884049.1:n.1132-224_1132-223delinsGT
XM_017028561.2:c.346-224_346-223delinsGT XP_016884050.1:n.346-224_346-223delinsGT
XM_024452148.1:c.1039-224_1039-223delinsGT XP_024307916.1:n.1039-224_1039-223delinsGT
XM_024452149.1:c.1039-1338_1039-1337delinsGT XP_024307917.1:n.1039-1338_1039-1337delinsGT
XR_937805.2:n.1179-224_1179-223delinsGT
XR_937806.2:n.1179-1338_1179-1337delinsGT
XR_937807.2:n.1179-82_1179-81delinsGT
NM_001005735.2:c.1138-224_1138-223delinsGT NP_001005735.1:n.1138-224_1138-223delinsGT
NM_001257387.2:c.346-224_346-223delinsGT NP_001244316.1:n.346-224_346-223delinsGT
NM_001349956.2:c.808-224_808-223delinsGT NP_001336885.1:n.808-224_808-223delinsGT