Canonical Allele Identifier: CA2400240123
Gene: CHEK2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28699732_28699737delinsATTCTC , CM000684.2:g.28699732_28699737delinsATTCTC GRCh38
NC_000022.10:g.29095720_29095725delinsATTCTC , CM000684.1:g.29095720_29095725delinsATTCTC GRCh37
NC_000022.9:g.27425720_27425725delinsATTCTC NCBI36
NG_008150.1:g.47098_47103delinsGAGAAT
NG_008150.2:g.47130_47135delinsGAGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1008+101_1008+106delinsGAGAAT ENSP00000518557.1:n.1008+101_1008+106delinsGAGAAT
ENST00000402731.6:c.807+101_807+106delinsGAGAAT ENSP00000384835.2:n.807+101_807+106delinsGAGAAT
ENST00000404276.6:c.1008+101_1008+106delinsGAGAAT MANE Select ENSP00000385747.1:n.1008+101_1008+106delinsGAGAAT
ENST00000425190.7:c.345+101_345+106delinsGAGAAT ENSP00000390244.2:n.345+101_345+106delinsGAGAAT
ENST00000464581.6:c.348+101_348+106delinsGAGAAT ENSP00000483777.2:n.348+101_348+106delinsGAGAAT
ENST00000648295.1:n.560+101_560+106delinsGAGAAT
ENST00000649563.1:c.345+101_345+106delinsGAGAAT ENSP00000496928.1:n.345+101_345+106delinsGAGAAT
ENST00000650281.1:c.1008+101_1008+106delinsGAGAAT ENSP00000497000.1:n.1008+101_1008+106delinsGAGAAT
ENST00000328354.10:c.1008+101_1008+106delinsGAGAAT ENSP00000329178.6:n.1008+101_1008+106delinsGAGAAT
ENST00000348295.7:c.1008+101_1008+106delinsGAGAAT ENSP00000329012.5:n.1008+101_1008+106delinsGAGAAT
ENST00000382580.6:c.1137+101_1137+106delinsGAGAAT ENSP00000372023.2:n.1137+101_1137+106delinsGAGAAT
ENST00000402731.5:c.1008+101_1008+106delinsGAGAAT ENSP00000384835.1:n.1008+101_1008+106delinsGAGAAT
ENST00000403642.5:c.735+101_735+106delinsGAGAAT ENSP00000384919.1:n.735+101_735+106delinsGAGAAT
ENST00000404276.5:c.1008+101_1008+106delinsGAGAAT ENSP00000385747.1:n.1008+101_1008+106delinsGAGAAT
ENST00000405598.5:c.1008+101_1008+106delinsGAGAAT ENSP00000386087.1:n.1008+101_1008+106delinsGAGAAT
ENST00000416671.5:c.*498+101_*498+106delinsGAGAAT ENSP00000402225.1:n.*498+101_*498+106delinsGAGAAT
ENST00000417588.5:c.917+101_917+106delinsGAGAAT ENSP00000412901.1:n.917+101_917+106delinsGAGAAT
ENST00000425190.6:c.345+101_345+106delinsGAGAAT ENSP00000390244.1:n.345+101_345+106delinsGAGAAT
ENST00000433028.6:c.*733+101_*733+106delinsGAGAAT ENSP00000403659.1:n.*733+101_*733+106delinsGAGAAT
ENST00000433728.5:c.946+101_946+106delinsGAGAAT ENSP00000404400.1:n.946+101_946+106delinsGAGAAT
ENST00000434810.5:c.239+101_239+106delinsGAGAAT
ENST00000447421.5:c.807+101_807+106delinsGAGAAT ENSP00000397478.2:n.807+101_807+106delinsGAGAAT
ENST00000448511.5:c.898+101_898+106delinsGAGAAT ENSP00000404567.1:n.898+101_898+106delinsGAGAAT
ENST00000456369.5:c.263+101_263+106delinsGAGAAT
ENST00000464581.5:c.348+101_348+106delinsGAGAAT ENSP00000483777.1:n.348+101_348+106delinsGAGAAT
ENST00000491919.5:n.565+101_565+106delinsGAGAAT
NM_001005735.1:c.1137+101_1137+106delinsGAGAAT NP_001005735.1:n.1137+101_1137+106delinsGAGAAT
NM_001257387.1:c.345+101_345+106delinsGAGAAT NP_001244316.1:n.345+101_345+106delinsGAGAAT
NM_007194.3:c.1008+101_1008+106delinsGAGAAT NP_009125.1:n.1008+101_1008+106delinsGAGAAT
NM_145862.2:c.1008+101_1008+106delinsGAGAAT NP_665861.1:n.1008+101_1008+106delinsGAGAAT
XM_006724114.2:c.528+101_528+106delinsGAGAAT XP_006724177.1:n.528+101_528+106delinsGAGAAT
XM_006724116.2:c.465+101_465+106delinsGAGAAT XP_006724179.2:n.465+101_465+106delinsGAGAAT
XM_011529839.1:c.1167+101_1167+106delinsGAGAAT XP_011528141.1:n.1167+101_1167+106delinsGAGAAT
XM_011529840.1:c.1167+101_1167+106delinsGAGAAT XP_011528142.1:n.1167+101_1167+106delinsGAGAAT
XM_011529841.1:c.936+101_936+106delinsGAGAAT XP_011528143.1:n.936+101_936+106delinsGAGAAT
XM_011529842.1:c.837+101_837+106delinsGAGAAT XP_011528144.1:n.837+101_837+106delinsGAGAAT
XM_011529843.1:c.807+101_807+106delinsGAGAAT XP_011528145.1:n.807+101_807+106delinsGAGAAT
XM_011529844.1:c.1167+101_1167+106delinsGAGAAT XP_011528146.1:n.1167+101_1167+106delinsGAGAAT
XM_011529845.1:c.345+101_345+106delinsGAGAAT XP_011528147.1:n.345+101_345+106delinsGAGAAT
XR_937805.1:n.1167+101_1167+106delinsGAGAAT
XR_937806.1:n.1162+101_1162+106delinsGAGAAT
XR_937807.1:n.1162+101_1162+106delinsGAGAAT
NM_001349956.1:c.807+101_807+106delinsGAGAAT NP_001336885.1:n.807+101_807+106delinsGAGAAT
NM_007194.4:c.1008+101_1008+106delinsGAGAAT MANE Select NP_009125.1:n.1008+101_1008+106delinsGAGAAT
XM_006724114.3:c.561+101_561+106delinsGAGAAT XP_006724177.2:n.561+101_561+106delinsGAGAAT
XM_011529839.2:c.1167+101_1167+106delinsGAGAAT XP_011528141.1:n.1167+101_1167+106delinsGAGAAT
XM_011529840.3:c.1167+101_1167+106delinsGAGAAT XP_011528142.1:n.1167+101_1167+106delinsGAGAAT
XM_011529842.2:c.837+101_837+106delinsGAGAAT XP_011528144.1:n.837+101_837+106delinsGAGAAT
XM_011529844.2:c.1167+101_1167+106delinsGAGAAT XP_011528146.1:n.1167+101_1167+106delinsGAGAAT
XM_011529845.2:c.345+101_345+106delinsGAGAAT XP_011528147.1:n.345+101_345+106delinsGAGAAT
XM_017028560.1:c.1131+101_1131+106delinsGAGAAT XP_016884049.1:n.1131+101_1131+106delinsGAGAAT
XM_017028561.2:c.345+101_345+106delinsGAGAAT XP_016884050.1:n.345+101_345+106delinsGAGAAT
XM_024452148.1:c.1038+101_1038+106delinsGAGAAT XP_024307916.1:n.1038+101_1038+106delinsGAGAAT
XM_024452149.1:c.1038+101_1038+106delinsGAGAAT XP_024307917.1:n.1038+101_1038+106delinsGAGAAT
XR_937805.2:n.1178+101_1178+106delinsGAGAAT
XR_937806.2:n.1178+101_1178+106delinsGAGAAT
XR_937807.2:n.1178+101_1178+106delinsGAGAAT
NM_001005735.2:c.1137+101_1137+106delinsGAGAAT NP_001005735.1:n.1137+101_1137+106delinsGAGAAT
NM_001257387.2:c.345+101_345+106delinsGAGAAT NP_001244316.1:n.345+101_345+106delinsGAGAAT
NM_001349956.2:c.807+101_807+106delinsGAGAAT NP_001336885.1:n.807+101_807+106delinsGAGAAT
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