Canonical Allele Identifier: CA2400238284

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695771_28695772delinsCA , CM000684.2:g.28695771_28695772delinsCA	GRCh38
NC_000022.10:g.29091759_29091760delinsCA , CM000684.1:g.29091759_29091760delinsCA	GRCh37
NC_000022.9:g.27421759_27421760delinsCA	NCBI36
NG_008150.1:g.51063_51064delinsTG
NG_008150.2:g.51095_51096delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-530_1009-529delinsTG	ENSP00000518557.1:n.1009-530_1009-529delinsTG
ENST00000402731.6:c.996_997delinsTG	ENSP00000384835.2:p.Val332=
ENST00000404276.6:c.1197_1198delinsTG MANE Select	ENSP00000385747.1:p.Val399=
ENST00000425190.7:c.534_535delinsTG	ENSP00000390244.2:p.Val178=
ENST00000464581.6:c.537_538delinsTG	ENSP00000483777.2:p.Val179=
ENST00000648295.1:n.749_750delinsTG
ENST00000649563.1:c.534_535delinsTG	ENSP00000496928.1:p.Val178=
ENST00000650281.1:c.1197_1198delinsTG	ENSP00000497000.1:p.Val399=
ENST00000328354.10:c.1197_1198delinsTG	ENSP00000329178.6:p.Val399=
ENST00000348295.7:c.1110_1111delinsTG	ENSP00000329012.5:p.Val370=
ENST00000382580.6:c.1326_1327delinsTG	ENSP00000372023.2:p.Val442=
ENST00000402731.5:c.1110_1111delinsTG	ENSP00000384835.1:p.Val370=
ENST00000403642.5:c.924_925delinsTG	ENSP00000384919.1:p.Val308=
ENST00000404276.5:c.1197_1198delinsTG	ENSP00000385747.1:p.Val399=
ENST00000405598.5:c.1197_1198delinsTG	ENSP00000386087.1:p.Val399=
ENST00000416671.5:c.*687_*688delinsTG	ENSP00000402225.1:n.*687_*688delinsTG
ENST00000417588.5:c.1106_1107delinsTG	ENSP00000412901.1:n.1106_1107delinsTG
ENST00000433728.5:c.1135_1136delinsTG	ENSP00000404400.1:n.1135_1136delinsTG
ENST00000434810.5:c.428_429delinsTG
ENST00000448511.5:c.1087_1088delinsTG	ENSP00000404567.1:n.1087_1088delinsTG
ENST00000456369.5:c.263+4066_263+4067delinsTG
NM_001005735.1:c.1326_1327delinsTG	NP_001005735.1:p.Val442=
NM_001257387.1:c.534_535delinsTG	NP_001244316.1:p.Val178=
NM_007194.3:c.1197_1198delinsTG	NP_009125.1:p.Val399=
NM_145862.2:c.1110_1111delinsTG	NP_665861.1:p.Val370=
XM_006724114.2:c.717_718delinsTG	XP_006724177.1:p.Val239=
XM_006724116.2:c.654_655delinsTG	XP_006724179.2:p.Val218=
XM_011529839.1:c.1356_1357delinsTG	XP_011528141.1:p.Val452=
XM_011529840.1:c.1269_1270delinsTG	XP_011528142.1:p.Val423=
XM_011529841.1:c.1125_1126delinsTG	XP_011528143.1:p.Val375=
XM_011529842.1:c.1026_1027delinsTG	XP_011528144.1:p.Val342=
XM_011529843.1:c.996_997delinsTG	XP_011528145.1:p.Val332=
XM_011529845.1:c.534_535delinsTG	XP_011528147.1:p.Val178=
XR_937805.1:n.1356_1357delinsTG
NM_001349956.1:c.996_997delinsTG	NP_001336885.1:p.Val332=
NM_007194.4:c.1197_1198delinsTG MANE Select	NP_009125.1:p.Val399=
XM_006724114.3:c.750_751delinsTG	XP_006724177.2:p.Val250=
XM_011529839.2:c.1356_1357delinsTG	XP_011528141.1:p.Val452=
XM_011529840.3:c.1269_1270delinsTG	XP_011528142.1:p.Val423=
XM_011529842.2:c.1026_1027delinsTG	XP_011528144.1:p.Val342=
XM_011529845.2:c.534_535delinsTG	XP_011528147.1:p.Val178=
XM_017028560.1:c.1320_1321delinsTG	XP_016884049.1:p.Val440=
XM_017028561.2:c.534_535delinsTG	XP_016884050.1:p.Val178=
XM_024452148.1:c.1227_1228delinsTG	XP_024307916.1:p.Val409=
XM_024452149.1:c.1140_1141delinsTG	XP_024307917.1:p.Val380=
XR_937805.2:n.1367_1368delinsTG
NM_001005735.2:c.1326_1327delinsTG	NP_001005735.1:p.Val442=
NM_001257387.2:c.534_535delinsTG	NP_001244316.1:p.Val178=
NM_001349956.2:c.996_997delinsTG	NP_001336885.1:p.Val332=