Canonical Allele Identifier: CA2400242629

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28704763_28704768delinsTAAAAA , CM000684.2:g.28704763_28704768delinsTAAAAA	GRCh38
NC_000022.10:g.29100751_29100756delinsTAAAAA , CM000684.1:g.29100751_29100756delinsTAAAAA	GRCh37
NC_000022.9:g.27430751_27430756delinsTAAAAA	NCBI36
NG_008150.1:g.42067_42072delinsTTTTTA
NG_008150.2:g.42099_42104delinsTTTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.756-1202_756-1197delinsTTTTTA	ENSP00000396903.2:n.756-1202_756-1197deli...
ENST00000711048.1:c.847-1202_847-1197delinsTTTTTA	ENSP00000518557.1:n.847-1202_847-1197deli...
ENST00000402731.6:c.646-1202_646-1197delinsTTTTTA	ENSP00000384835.2:n.646-1202_646-1197deli...
ENST00000404276.6:c.847-1202_847-1197delinsTTTTTA MANE Select	ENSP00000385747.1:n.847-1202_847-1197deli...
ENST00000425190.7:c.184-1202_184-1197delinsTTTTTA	ENSP00000390244.2:n.184-1202_184-1197deli...
ENST00000464581.6:c.187-1202_187-1197delinsTTTTTA	ENSP00000483777.2:n.187-1202_187-1197deli...
ENST00000648295.1:n.399-1202_399-1197delinsTTTTTA
ENST00000649563.1:c.184-1202_184-1197delinsTTTTTA	ENSP00000496928.1:n.184-1202_184-1197deli...
ENST00000650281.1:c.847-1202_847-1197delinsTTTTTA	ENSP00000497000.1:n.847-1202_847-1197deli...
ENST00000328354.10:c.847-1202_847-1197delinsTTTTTA	ENSP00000329178.6:n.847-1202_847-1197deli...
ENST00000348295.7:c.847-1202_847-1197delinsTTTTTA	ENSP00000329012.5:n.847-1202_847-1197deli...
ENST00000382580.6:c.976-1202_976-1197delinsTTTTTA	ENSP00000372023.2:n.976-1202_976-1197deli...
ENST00000402731.5:c.847-1202_847-1197delinsTTTTTA	ENSP00000384835.1:n.847-1202_847-1197deli...
ENST00000403642.5:c.574-1202_574-1197delinsTTTTTA	ENSP00000384919.1:n.574-1202_574-1197deli...
ENST00000404276.5:c.847-1202_847-1197delinsTTTTTA	ENSP00000385747.1:n.847-1202_847-1197deli...
ENST00000405598.5:c.847-1202_847-1197delinsTTTTTA	ENSP00000386087.1:n.847-1202_847-1197deli...
ENST00000416671.5:c.*337-1202_*337-1197delinsTTTTTA	ENSP00000402225.1:n.*337-1202_*337-1197de...
ENST00000417588.5:c.756-1202_756-1197delinsTTTTTA	ENSP00000412901.1:n.756-1202_756-1197deli...
ENST00000425190.6:c.184-1202_184-1197delinsTTTTTA	ENSP00000390244.1:n.184-1202_184-1197deli...
ENST00000433028.6:c.*572-1202_*572-1197delinsTTTTTA	ENSP00000403659.1:n.*572-1202_*572-1197de...
ENST00000433728.5:c.847-4831_847-4826delinsTTTTTA	ENSP00000404400.1:n.847-4831_847-4826deli...
ENST00000434810.5:c.78-1202_78-1197delinsTTTTTA
ENST00000439346.5:c.318-1202_318-1197delinsTTTTTA	ENSP00000396903.1:n.318-1202_318-1197deli...
ENST00000447421.5:c.646-1202_646-1197delinsTTTTTA	ENSP00000397478.2:n.646-1202_646-1197deli...
ENST00000448511.5:c.737-1202_737-1197delinsTTTTTA	ENSP00000404567.1:n.737-1202_737-1197deli...
ENST00000456369.5:c.102-1202_102-1197delinsTTTTTA
ENST00000464581.5:c.187-1202_187-1197delinsTTTTTA	ENSP00000483777.1:n.187-1202_187-1197deli...
ENST00000491919.5:n.404-1202_404-1197delinsTTTTTA
NM_001005735.1:c.976-1202_976-1197delinsTTTTTA	NP_001005735.1:n.976-1202_976-1197delinsT...
NM_001257387.1:c.184-1202_184-1197delinsTTTTTA	NP_001244316.1:n.184-1202_184-1197delinsT...
NM_007194.3:c.847-1202_847-1197delinsTTTTTA	NP_009125.1:n.847-1202_847-1197delinsTTTT...
NM_145862.2:c.847-1202_847-1197delinsTTTTTA	NP_665861.1:n.847-1202_847-1197delinsTTTT...
XM_006724114.2:c.367-1202_367-1197delinsTTTTTA	XP_006724177.1:n.367-1202_367-1197delinsT...
XM_006724116.2:c.304-1202_304-1197delinsTTTTTA	XP_006724179.2:n.304-1202_304-1197delinsT...
XM_011529839.1:c.1006-1202_1006-1197delinsTTTTTA	XP_011528141.1:n.1006-1202_1006-1197delin...
XM_011529840.1:c.1006-1202_1006-1197delinsTTTTTA	XP_011528142.1:n.1006-1202_1006-1197delin...
XM_011529841.1:c.775-1202_775-1197delinsTTTTTA	XP_011528143.1:n.775-1202_775-1197delinsT...
XM_011529842.1:c.676-1202_676-1197delinsTTTTTA	XP_011528144.1:n.676-1202_676-1197delinsT...
XM_011529843.1:c.646-1202_646-1197delinsTTTTTA	XP_011528145.1:n.646-1202_646-1197delinsT...
XM_011529844.1:c.1006-1202_1006-1197delinsTTTTTA	XP_011528146.1:n.1006-1202_1006-1197delin...
XM_011529845.1:c.184-1202_184-1197delinsTTTTTA	XP_011528147.1:n.184-1202_184-1197delinsT...
XR_937805.1:n.1068-4831_1068-4826delinsTTTTTA
XR_937806.1:n.1063-4831_1063-4826delinsTTTTTA
XR_937807.1:n.1063-4831_1063-4826delinsTTTTTA
NM_001349956.1:c.646-1202_646-1197delinsTTTTTA	NP_001336885.1:n.646-1202_646-1197delinsT...
NM_007194.4:c.847-1202_847-1197delinsTTTTTA MANE Select	NP_009125.1:n.847-1202_847-1197delinsTTTT...
XM_006724114.3:c.400-1202_400-1197delinsTTTTTA	XP_006724177.2:n.400-1202_400-1197delinsT...
XM_011529839.2:c.1006-1202_1006-1197delinsTTTTTA	XP_011528141.1:n.1006-1202_1006-1197delin...
XM_011529840.3:c.1006-1202_1006-1197delinsTTTTTA	XP_011528142.1:n.1006-1202_1006-1197delin...
XM_011529842.2:c.676-1202_676-1197delinsTTTTTA	XP_011528144.1:n.676-1202_676-1197delinsT...
XM_011529844.2:c.1006-1202_1006-1197delinsTTTTTA	XP_011528146.1:n.1006-1202_1006-1197delin...
XM_011529845.2:c.184-1202_184-1197delinsTTTTTA	XP_011528147.1:n.184-1202_184-1197delinsT...
XM_017028560.1:c.970-1202_970-1197delinsTTTTTA	XP_016884049.1:n.970-1202_970-1197delinsT...
XM_017028561.2:c.184-1202_184-1197delinsTTTTTA	XP_016884050.1:n.184-1202_184-1197delinsT...
XM_024452148.1:c.877-1202_877-1197delinsTTTTTA	XP_024307916.1:n.877-1202_877-1197delinsT...
XM_024452149.1:c.877-1202_877-1197delinsTTTTTA	XP_024307917.1:n.877-1202_877-1197delinsT...
XR_937805.2:n.1079-4831_1079-4826delinsTTTTTA
XR_937806.2:n.1079-4831_1079-4826delinsTTTTTA
XR_937807.2:n.1079-4831_1079-4826delinsTTTTTA
NM_001005735.2:c.976-1202_976-1197delinsTTTTTA	NP_001005735.1:n.976-1202_976-1197delinsT...
NM_001257387.2:c.184-1202_184-1197delinsTTTTTA	NP_001244316.1:n.184-1202_184-1197delinsT...
NM_001349956.2:c.646-1202_646-1197delinsTTTTTA	NP_001336885.1:n.646-1202_646-1197delinsT...