Canonical Allele Identifier: CA2655953274

Gene: CHEK2

Linked Data

• gnomAD v4: 22-28699687-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699690_28699692del , CM000684.2:g.28699690_28699692del	GRCh38
NC_000022.10:g.29095678_29095680del , CM000684.1:g.29095678_29095680del	GRCh37
NC_000022.9:g.27425678_27425680del	NCBI36
NG_008150.1:g.47145_47147del
NG_008150.2:g.47177_47179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1008+148_1008+150del	ENSP00000518557.1:n.1008+148_1008+150del
ENST00000402731.6:c.807+148_807+150del	ENSP00000384835.2:n.807+148_807+150del
ENST00000404276.6:c.1008+148_1008+150del MANE Select	ENSP00000385747.1:n.1008+148_1008+150del
ENST00000425190.7:c.345+148_345+150del	ENSP00000390244.2:n.345+148_345+150del
ENST00000464581.6:c.348+148_348+150del	ENSP00000483777.2:n.348+148_348+150del
ENST00000648295.1:n.560+148_560+150del
ENST00000649563.1:c.345+148_345+150del	ENSP00000496928.1:n.345+148_345+150del
ENST00000650281.1:c.1008+148_1008+150del	ENSP00000497000.1:n.1008+148_1008+150del
ENST00000328354.10:c.1008+148_1008+150del	ENSP00000329178.6:n.1008+148_1008+150del
ENST00000348295.7:c.1008+148_1008+150del	ENSP00000329012.5:n.1008+148_1008+150del
ENST00000382580.6:c.1137+148_1137+150del	ENSP00000372023.2:n.1137+148_1137+150del
ENST00000402731.5:c.1008+148_1008+150del	ENSP00000384835.1:n.1008+148_1008+150del
ENST00000403642.5:c.735+148_735+150del	ENSP00000384919.1:n.735+148_735+150del
ENST00000404276.5:c.1008+148_1008+150del	ENSP00000385747.1:n.1008+148_1008+150del
ENST00000405598.5:c.1008+148_1008+150del	ENSP00000386087.1:n.1008+148_1008+150del
ENST00000416671.5:c.*498+148_*498+150del	ENSP00000402225.1:n.*498+148_*498+150del
ENST00000417588.5:c.917+148_917+150del	ENSP00000412901.1:n.917+148_917+150del
ENST00000425190.6:c.345+148_345+150del	ENSP00000390244.1:n.345+148_345+150del
ENST00000433028.6:c.*733+148_*733+150del	ENSP00000403659.1:n.*733+148_*733+150del
ENST00000433728.5:c.946+148_946+150del	ENSP00000404400.1:n.946+148_946+150del
ENST00000434810.5:c.239+148_239+150del
ENST00000447421.5:c.807+148_807+150del	ENSP00000397478.2:n.807+148_807+150del
ENST00000448511.5:c.898+148_898+150del	ENSP00000404567.1:n.898+148_898+150del
ENST00000456369.5:c.263+148_263+150del
ENST00000464581.5:c.348+148_348+150del	ENSP00000483777.1:n.348+148_348+150del
ENST00000491919.5:n.565+148_565+150del
NM_001005735.1:c.1137+148_1137+150del	NP_001005735.1:n.1137+148_1137+150del
NM_001257387.1:c.345+148_345+150del	NP_001244316.1:n.345+148_345+150del
NM_007194.3:c.1008+148_1008+150del	NP_009125.1:n.1008+148_1008+150del
NM_145862.2:c.1008+148_1008+150del	NP_665861.1:n.1008+148_1008+150del
XM_006724114.2:c.528+148_528+150del	XP_006724177.1:n.528+148_528+150del
XM_006724116.2:c.465+148_465+150del	XP_006724179.2:n.465+148_465+150del
XM_011529839.1:c.1167+148_1167+150del	XP_011528141.1:n.1167+148_1167+150del
XM_011529840.1:c.1167+148_1167+150del	XP_011528142.1:n.1167+148_1167+150del
XM_011529841.1:c.936+148_936+150del	XP_011528143.1:n.936+148_936+150del
XM_011529842.1:c.837+148_837+150del	XP_011528144.1:n.837+148_837+150del
XM_011529843.1:c.807+148_807+150del	XP_011528145.1:n.807+148_807+150del
XM_011529844.1:c.1167+148_1167+150del	XP_011528146.1:n.1167+148_1167+150del
XM_011529845.1:c.345+148_345+150del	XP_011528147.1:n.345+148_345+150del
XR_937805.1:n.1167+148_1167+150del
XR_937806.1:n.1162+148_1162+150del
XR_937807.1:n.1162+148_1162+150del
NM_001349956.1:c.807+148_807+150del	NP_001336885.1:n.807+148_807+150del
NM_007194.4:c.1008+148_1008+150del MANE Select	NP_009125.1:n.1008+148_1008+150del
XM_006724114.3:c.561+148_561+150del	XP_006724177.2:n.561+148_561+150del
XM_011529839.2:c.1167+148_1167+150del	XP_011528141.1:n.1167+148_1167+150del
XM_011529840.3:c.1167+148_1167+150del	XP_011528142.1:n.1167+148_1167+150del
XM_011529842.2:c.837+148_837+150del	XP_011528144.1:n.837+148_837+150del
XM_011529844.2:c.1167+148_1167+150del	XP_011528146.1:n.1167+148_1167+150del
XM_011529845.2:c.345+148_345+150del	XP_011528147.1:n.345+148_345+150del
XM_017028560.1:c.1131+148_1131+150del	XP_016884049.1:n.1131+148_1131+150del
XM_017028561.2:c.345+148_345+150del	XP_016884050.1:n.345+148_345+150del
XM_024452148.1:c.1038+148_1038+150del	XP_024307916.1:n.1038+148_1038+150del
XM_024452149.1:c.1038+148_1038+150del	XP_024307917.1:n.1038+148_1038+150del
XR_937805.2:n.1178+148_1178+150del
XR_937806.2:n.1178+148_1178+150del
XR_937807.2:n.1178+148_1178+150del
NM_001005735.2:c.1137+148_1137+150del	NP_001005735.1:n.1137+148_1137+150del
NM_001257387.2:c.345+148_345+150del	NP_001244316.1:n.345+148_345+150del
NM_001349956.2:c.807+148_807+150del	NP_001336885.1:n.807+148_807+150del