Canonical Allele Identifier: CA2655953291

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28699706-CCAAGAAGAGAACAGCAAACACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699709_28699730del , CM000684.2:g.28699709_28699730del	GRCh38
NC_000022.10:g.29095697_29095718del , CM000684.1:g.29095697_29095718del	GRCh37
NC_000022.9:g.27425697_27425718del	NCBI36
NG_008150.1:g.47107_47128del
NG_008150.2:g.47139_47160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1008+110_1008+131del	ENSP00000518557.1:n.1008+110_1008+131del
ENST00000402731.6:c.807+110_807+131del	ENSP00000384835.2:n.807+110_807+131del
ENST00000404276.6:c.1008+110_1008+131del MANE Select	ENSP00000385747.1:n.1008+110_1008+131del
ENST00000425190.7:c.345+110_345+131del	ENSP00000390244.2:n.345+110_345+131del
ENST00000464581.6:c.348+110_348+131del	ENSP00000483777.2:n.348+110_348+131del
ENST00000648295.1:n.560+110_560+131del
ENST00000649563.1:c.345+110_345+131del	ENSP00000496928.1:n.345+110_345+131del
ENST00000650281.1:c.1008+110_1008+131del	ENSP00000497000.1:n.1008+110_1008+131del
ENST00000328354.10:c.1008+110_1008+131del	ENSP00000329178.6:n.1008+110_1008+131del
ENST00000348295.7:c.1008+110_1008+131del	ENSP00000329012.5:n.1008+110_1008+131del
ENST00000382580.6:c.1137+110_1137+131del	ENSP00000372023.2:n.1137+110_1137+131del
ENST00000402731.5:c.1008+110_1008+131del	ENSP00000384835.1:n.1008+110_1008+131del
ENST00000403642.5:c.735+110_735+131del	ENSP00000384919.1:n.735+110_735+131del
ENST00000404276.5:c.1008+110_1008+131del	ENSP00000385747.1:n.1008+110_1008+131del
ENST00000405598.5:c.1008+110_1008+131del	ENSP00000386087.1:n.1008+110_1008+131del
ENST00000416671.5:c.*498+110_*498+131del	ENSP00000402225.1:n.*498+110_*498+131del
ENST00000417588.5:c.917+110_917+131del	ENSP00000412901.1:n.917+110_917+131del
ENST00000425190.6:c.345+110_345+131del	ENSP00000390244.1:n.345+110_345+131del
ENST00000433028.6:c.*733+110_*733+131del	ENSP00000403659.1:n.*733+110_*733+131del
ENST00000433728.5:c.946+110_946+131del	ENSP00000404400.1:n.946+110_946+131del
ENST00000434810.5:c.239+110_239+131del
ENST00000447421.5:c.807+110_807+131del	ENSP00000397478.2:n.807+110_807+131del
ENST00000448511.5:c.898+110_898+131del	ENSP00000404567.1:n.898+110_898+131del
ENST00000456369.5:c.263+110_263+131del
ENST00000464581.5:c.348+110_348+131del	ENSP00000483777.1:n.348+110_348+131del
ENST00000491919.5:n.565+110_565+131del
NM_001005735.1:c.1137+110_1137+131del	NP_001005735.1:n.1137+110_1137+131del
NM_001257387.1:c.345+110_345+131del	NP_001244316.1:n.345+110_345+131del
NM_007194.3:c.1008+110_1008+131del	NP_009125.1:n.1008+110_1008+131del
NM_145862.2:c.1008+110_1008+131del	NP_665861.1:n.1008+110_1008+131del
XM_006724114.2:c.528+110_528+131del	XP_006724177.1:n.528+110_528+131del
XM_006724116.2:c.465+110_465+131del	XP_006724179.2:n.465+110_465+131del
XM_011529839.1:c.1167+110_1167+131del	XP_011528141.1:n.1167+110_1167+131del
XM_011529840.1:c.1167+110_1167+131del	XP_011528142.1:n.1167+110_1167+131del
XM_011529841.1:c.936+110_936+131del	XP_011528143.1:n.936+110_936+131del
XM_011529842.1:c.837+110_837+131del	XP_011528144.1:n.837+110_837+131del
XM_011529843.1:c.807+110_807+131del	XP_011528145.1:n.807+110_807+131del
XM_011529844.1:c.1167+110_1167+131del	XP_011528146.1:n.1167+110_1167+131del
XM_011529845.1:c.345+110_345+131del	XP_011528147.1:n.345+110_345+131del
XR_937805.1:n.1167+110_1167+131del
XR_937806.1:n.1162+110_1162+131del
XR_937807.1:n.1162+110_1162+131del
NM_001349956.1:c.807+110_807+131del	NP_001336885.1:n.807+110_807+131del
NM_007194.4:c.1008+110_1008+131del MANE Select	NP_009125.1:n.1008+110_1008+131del
XM_006724114.3:c.561+110_561+131del	XP_006724177.2:n.561+110_561+131del
XM_011529839.2:c.1167+110_1167+131del	XP_011528141.1:n.1167+110_1167+131del
XM_011529840.3:c.1167+110_1167+131del	XP_011528142.1:n.1167+110_1167+131del
XM_011529842.2:c.837+110_837+131del	XP_011528144.1:n.837+110_837+131del
XM_011529844.2:c.1167+110_1167+131del	XP_011528146.1:n.1167+110_1167+131del
XM_011529845.2:c.345+110_345+131del	XP_011528147.1:n.345+110_345+131del
XM_017028560.1:c.1131+110_1131+131del	XP_016884049.1:n.1131+110_1131+131del
XM_017028561.2:c.345+110_345+131del	XP_016884050.1:n.345+110_345+131del
XM_024452148.1:c.1038+110_1038+131del	XP_024307916.1:n.1038+110_1038+131del
XM_024452149.1:c.1038+110_1038+131del	XP_024307917.1:n.1038+110_1038+131del
XR_937805.2:n.1178+110_1178+131del
XR_937806.2:n.1178+110_1178+131del
XR_937807.2:n.1178+110_1178+131del
NM_001005735.2:c.1137+110_1137+131del	NP_001005735.1:n.1137+110_1137+131del
NM_001257387.2:c.345+110_345+131del	NP_001244316.1:n.345+110_345+131del
NM_001349956.2:c.807+110_807+131del	NP_001336885.1:n.807+110_807+131del