Canonical Allele Identifier: CA2400240075

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699644_28699645delinsGA , CM000684.2:g.28699644_28699645delinsGA	GRCh38
NC_000022.10:g.29095632_29095633delinsGA , CM000684.1:g.29095632_29095633delinsGA	GRCh37
NC_000022.9:g.27425632_27425633delinsGA	NCBI36
NG_008150.1:g.47190_47191delinsTC
NG_008150.2:g.47222_47223delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1008+193_1008+194delinsTC	ENSP00000518557.1:n.1008+193_1008+194delinsTC
ENST00000402731.6:c.807+193_807+194delinsTC	ENSP00000384835.2:n.807+193_807+194delinsTC
ENST00000404276.6:c.1008+193_1008+194delinsTC MANE Select	ENSP00000385747.1:n.1008+193_1008+194delinsTC
ENST00000425190.7:c.345+193_345+194delinsTC	ENSP00000390244.2:n.345+193_345+194delinsTC
ENST00000464581.6:c.348+193_348+194delinsTC	ENSP00000483777.2:n.348+193_348+194delinsTC
ENST00000648295.1:n.560+193_560+194delinsTC
ENST00000649563.1:c.345+193_345+194delinsTC	ENSP00000496928.1:n.345+193_345+194delinsTC
ENST00000650281.1:c.1008+193_1008+194delinsTC	ENSP00000497000.1:n.1008+193_1008+194delinsTC
ENST00000328354.10:c.1008+193_1008+194delinsTC	ENSP00000329178.6:n.1008+193_1008+194delinsTC
ENST00000348295.7:c.1008+193_1008+194delinsTC	ENSP00000329012.5:n.1008+193_1008+194delinsTC
ENST00000382580.6:c.1137+193_1137+194delinsTC	ENSP00000372023.2:n.1137+193_1137+194delinsTC
ENST00000402731.5:c.1008+193_1008+194delinsTC	ENSP00000384835.1:n.1008+193_1008+194delinsTC
ENST00000403642.5:c.735+193_735+194delinsTC	ENSP00000384919.1:n.735+193_735+194delinsTC
ENST00000404276.5:c.1008+193_1008+194delinsTC	ENSP00000385747.1:n.1008+193_1008+194delinsTC
ENST00000405598.5:c.1008+193_1008+194delinsTC	ENSP00000386087.1:n.1008+193_1008+194delinsTC
ENST00000416671.5:c.*498+193_*498+194delinsTC	ENSP00000402225.1:n.*498+193_*498+194delinsTC
ENST00000417588.5:c.917+193_917+194delinsTC	ENSP00000412901.1:n.917+193_917+194delinsTC
ENST00000425190.6:c.345+193_345+194delinsTC	ENSP00000390244.1:n.345+193_345+194delinsTC
ENST00000433028.6:c.*733+193_*733+194delinsTC	ENSP00000403659.1:n.*733+193_*733+194delinsTC
ENST00000433728.5:c.946+193_946+194delinsTC	ENSP00000404400.1:n.946+193_946+194delinsTC
ENST00000434810.5:c.239+193_239+194delinsTC
ENST00000447421.5:c.807+193_807+194delinsTC	ENSP00000397478.2:n.807+193_807+194delinsTC
ENST00000448511.5:c.898+193_898+194delinsTC	ENSP00000404567.1:n.898+193_898+194delinsTC
ENST00000456369.5:c.263+193_263+194delinsTC
ENST00000464581.5:c.348+193_348+194delinsTC	ENSP00000483777.1:n.348+193_348+194delinsTC
ENST00000491919.5:n.565+193_565+194delinsTC
NM_001005735.1:c.1137+193_1137+194delinsTC	NP_001005735.1:n.1137+193_1137+194delinsTC
NM_001257387.1:c.345+193_345+194delinsTC	NP_001244316.1:n.345+193_345+194delinsTC
NM_007194.3:c.1008+193_1008+194delinsTC	NP_009125.1:n.1008+193_1008+194delinsTC
NM_145862.2:c.1008+193_1008+194delinsTC	NP_665861.1:n.1008+193_1008+194delinsTC
XM_006724114.2:c.528+193_528+194delinsTC	XP_006724177.1:n.528+193_528+194delinsTC
XM_006724116.2:c.465+193_465+194delinsTC	XP_006724179.2:n.465+193_465+194delinsTC
XM_011529839.1:c.1167+193_1167+194delinsTC	XP_011528141.1:n.1167+193_1167+194delinsTC
XM_011529840.1:c.1167+193_1167+194delinsTC	XP_011528142.1:n.1167+193_1167+194delinsTC
XM_011529841.1:c.936+193_936+194delinsTC	XP_011528143.1:n.936+193_936+194delinsTC
XM_011529842.1:c.837+193_837+194delinsTC	XP_011528144.1:n.837+193_837+194delinsTC
XM_011529843.1:c.807+193_807+194delinsTC	XP_011528145.1:n.807+193_807+194delinsTC
XM_011529844.1:c.1167+193_1167+194delinsTC	XP_011528146.1:n.1167+193_1167+194delinsTC
XM_011529845.1:c.345+193_345+194delinsTC	XP_011528147.1:n.345+193_345+194delinsTC
XR_937805.1:n.1167+193_1167+194delinsTC
XR_937806.1:n.1162+193_1162+194delinsTC
XR_937807.1:n.1162+193_1162+194delinsTC
NM_001349956.1:c.807+193_807+194delinsTC	NP_001336885.1:n.807+193_807+194delinsTC
NM_007194.4:c.1008+193_1008+194delinsTC MANE Select	NP_009125.1:n.1008+193_1008+194delinsTC
XM_006724114.3:c.561+193_561+194delinsTC	XP_006724177.2:n.561+193_561+194delinsTC
XM_011529839.2:c.1167+193_1167+194delinsTC	XP_011528141.1:n.1167+193_1167+194delinsTC
XM_011529840.3:c.1167+193_1167+194delinsTC	XP_011528142.1:n.1167+193_1167+194delinsTC
XM_011529842.2:c.837+193_837+194delinsTC	XP_011528144.1:n.837+193_837+194delinsTC
XM_011529844.2:c.1167+193_1167+194delinsTC	XP_011528146.1:n.1167+193_1167+194delinsTC
XM_011529845.2:c.345+193_345+194delinsTC	XP_011528147.1:n.345+193_345+194delinsTC
XM_017028560.1:c.1131+193_1131+194delinsTC	XP_016884049.1:n.1131+193_1131+194delinsTC
XM_017028561.2:c.345+193_345+194delinsTC	XP_016884050.1:n.345+193_345+194delinsTC
XM_024452148.1:c.1038+193_1038+194delinsTC	XP_024307916.1:n.1038+193_1038+194delinsTC
XM_024452149.1:c.1038+193_1038+194delinsTC	XP_024307917.1:n.1038+193_1038+194delinsTC
XR_937805.2:n.1178+193_1178+194delinsTC
XR_937806.2:n.1178+193_1178+194delinsTC
XR_937807.2:n.1178+193_1178+194delinsTC
NM_001005735.2:c.1137+193_1137+194delinsTC	NP_001005735.1:n.1137+193_1137+194delinsTC
NM_001257387.2:c.345+193_345+194delinsTC	NP_001244316.1:n.345+193_345+194delinsTC
NM_001349956.2:c.807+193_807+194delinsTC	NP_001336885.1:n.807+193_807+194delinsTC