Canonical Allele Identifier: CA2818653196
Gene: CHEK2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28697066_28697067insCCCCAAACACACCCA , CM000684.2:g.28697066_28697067insCCCCAAACACACCCA GRCh38
NC_000022.10:g.29093054_29093055insCCCCAAACACACCCA , CM000684.1:g.29093054_29093055insCCCCAAACACACCCA GRCh37
NC_000022.9:g.27423054_27423055insCCCCAAACACACCCA NCBI36
NG_008150.1:g.49768_49769insTGGGTGTGTTTGGGG
NG_008150.2:g.49800_49801insTGGGTGTGTTTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1825_1009-1824insTGGGTGTGTTTGGGG ENSP00000518557.1:n.1009-1825_1009-1824insTGGGTGTGTTTGGGG
ENST00000402731.6:c.808-80_808-79insTGGGTGTGTTTGGGG ENSP00000384835.2:n.808-80_808-79insTGGGTGTGTTTGGGG
ENST00000404276.6:c.1009-80_1009-79insTGGGTGTGTTTGGGG MANE Select ENSP00000385747.1:n.1009-80_1009-79insTGGGTGTGTTTGGGG
ENST00000425190.7:c.346-80_346-79insTGGGTGTGTTTGGGG ENSP00000390244.2:n.346-80_346-79insTGGGTGTGTTTGGGG
ENST00000464581.6:c.349-80_349-79insTGGGTGTGTTTGGGG ENSP00000483777.2:n.349-80_349-79insTGGGTGTGTTTGGGG
ENST00000648295.1:n.561-80_561-79insTGGGTGTGTTTGGGG
ENST00000649563.1:c.346-80_346-79insTGGGTGTGTTTGGGG ENSP00000496928.1:n.346-80_346-79insTGGGTGTGTTTGGGG
ENST00000650281.1:c.1009-80_1009-79insTGGGTGTGTTTGGGG ENSP00000497000.1:n.1009-80_1009-79insTGGGTGTGTTTGGGG
ENST00000328354.10:c.1009-80_1009-79insTGGGTGTGTTTGGGG ENSP00000329178.6:n.1009-80_1009-79insTGGGTGTGTTTGGGG
ENST00000348295.7:c.1009-1194_1009-1193insTGGGTGTGTTTGGGG ENSP00000329012.5:n.1009-1194_1009-1193insTGGGTGTGTTTGGGG
ENST00000382580.6:c.1138-80_1138-79insTGGGTGTGTTTGGGG ENSP00000372023.2:n.1138-80_1138-79insTGGGTGTGTTTGGGG
ENST00000402731.5:c.1009-1194_1009-1193insTGGGTGTGTTTGGGG ENSP00000384835.1:n.1009-1194_1009-1193insTGGGTGTGTTTGGGG
ENST00000403642.5:c.736-80_736-79insTGGGTGTGTTTGGGG ENSP00000384919.1:n.736-80_736-79insTGGGTGTGTTTGGGG
ENST00000404276.5:c.1009-80_1009-79insTGGGTGTGTTTGGGG ENSP00000385747.1:n.1009-80_1009-79insTGGGTGTGTTTGGGG
ENST00000405598.5:c.1009-80_1009-79insTGGGTGTGTTTGGGG ENSP00000386087.1:n.1009-80_1009-79insTGGGTGTGTTTGGGG
ENST00000416671.5:c.*499-80_*499-79insTGGGTGTGTTTGGGG ENSP00000402225.1:n.*499-80_*499-79insTGGGTGTGTTTGGGG
ENST00000417588.5:c.918-80_918-79insTGGGTGTGTTTGGGG ENSP00000412901.1:n.918-80_918-79insTGGGTGTGTTTGGGG
ENST00000425190.6:c.346-80_346-79insTGGGTGTGTTTGGGG ENSP00000390244.1:n.346-80_346-79insTGGGTGTGTTTGGGG
ENST00000433028.6:c.*734-80_*734-79insTGGGTGTGTTTGGGG ENSP00000403659.1:n.*734-80_*734-79insTGGGTGTGTTTGGGG
ENST00000433728.5:c.947-80_947-79insTGGGTGTGTTTGGGG ENSP00000404400.1:n.947-80_947-79insTGGGTGTGTTTGGGG
ENST00000434810.5:c.240-80_240-79insTGGGTGTGTTTGGGG
ENST00000447421.5:c.808-80_808-79insTGGGTGTGTTTGGGG ENSP00000397478.2:n.808-80_808-79insTGGGTGTGTTTGGGG
ENST00000448511.5:c.899-80_899-79insTGGGTGTGTTTGGGG ENSP00000404567.1:n.899-80_899-79insTGGGTGTGTTTGGGG
ENST00000456369.5:c.263+2771_263+2772insTGGGTGTGTTTGGGG
ENST00000464581.5:c.349-80_349-79insTGGGTGTGTTTGGGG ENSP00000483777.1:n.349-80_349-79insTGGGTGTGTTTGGGG
ENST00000491919.5:n.566-80_566-79insTGGGTGTGTTTGGGG
NM_001005735.1:c.1138-80_1138-79insTGGGTGTGTTTGGGG NP_001005735.1:n.1138-80_1138-79insTGGGTGTGTTTGGGG
NM_001257387.1:c.346-80_346-79insTGGGTGTGTTTGGGG NP_001244316.1:n.346-80_346-79insTGGGTGTGTTTGGGG
NM_007194.3:c.1009-80_1009-79insTGGGTGTGTTTGGGG NP_009125.1:n.1009-80_1009-79insTGGGTGTGTTTGGGG
NM_145862.2:c.1009-1194_1009-1193insTGGGTGTGTTTGGGG NP_665861.1:n.1009-1194_1009-1193insTGGGTGTGTTTGGGG
XM_006724114.2:c.529-80_529-79insTGGGTGTGTTTGGGG XP_006724177.1:n.529-80_529-79insTGGGTGTGTTTGGGG
XM_006724116.2:c.466-80_466-79insTGGGTGTGTTTGGGG XP_006724179.2:n.466-80_466-79insTGGGTGTGTTTGGGG
XM_011529839.1:c.1168-80_1168-79insTGGGTGTGTTTGGGG XP_011528141.1:n.1168-80_1168-79insTGGGTGTGTTTGGGG
XM_011529840.1:c.1168-1194_1168-1193insTGGGTGTGTTTGGGG XP_011528142.1:n.1168-1194_1168-1193insTGGGTGTGTTTGGGG
XM_011529841.1:c.937-80_937-79insTGGGTGTGTTTGGGG XP_011528143.1:n.937-80_937-79insTGGGTGTGTTTGGGG
XM_011529842.1:c.838-80_838-79insTGGGTGTGTTTGGGG XP_011528144.1:n.838-80_838-79insTGGGTGTGTTTGGGG
XM_011529843.1:c.808-80_808-79insTGGGTGTGTTTGGGG XP_011528145.1:n.808-80_808-79insTGGGTGTGTTTGGGG
XM_011529844.1:c.1230_*1insTGGGTGTGTTTGGGG XP_011528146.1:n.1230_*1insTGGGTGTGTTTGGGG
XM_011529845.1:c.346-80_346-79insTGGGTGTGTTTGGGG XP_011528147.1:n.346-80_346-79insTGGGTGTGTTTGGGG
XR_937805.1:n.1168-80_1168-79insTGGGTGTGTTTGGGG
XR_937806.1:n.1163-1194_1163-1193insTGGGTGTGTTTGGGG
XR_937807.1:n.1225_1226insTGGGTGTGTTTGGGG
NM_001349956.1:c.808-80_808-79insTGGGTGTGTTTGGGG NP_001336885.1:n.808-80_808-79insTGGGTGTGTTTGGGG
NM_007194.4:c.1009-80_1009-79insTGGGTGTGTTTGGGG MANE Select NP_009125.1:n.1009-80_1009-79insTGGGTGTGTTTGGGG
XM_006724114.3:c.562-80_562-79insTGGGTGTGTTTGGGG XP_006724177.2:n.562-80_562-79insTGGGTGTGTTTGGGG
XM_011529839.2:c.1168-80_1168-79insTGGGTGTGTTTGGGG XP_011528141.1:n.1168-80_1168-79insTGGGTGTGTTTGGGG
XM_011529840.3:c.1168-1194_1168-1193insTGGGTGTGTTTGGGG XP_011528142.1:n.1168-1194_1168-1193insTGGGTGTGTTTGGGG
XM_011529842.2:c.838-80_838-79insTGGGTGTGTTTGGGG XP_011528144.1:n.838-80_838-79insTGGGTGTGTTTGGGG
XM_011529844.2:c.1230_*1insTGGGTGTGTTTGGGG XP_011528146.1:n.1230_*1insTGGGTGTGTTTGGGG
XM_011529845.2:c.346-80_346-79insTGGGTGTGTTTGGGG XP_011528147.1:n.346-80_346-79insTGGGTGTGTTTGGGG
XM_017028560.1:c.1132-80_1132-79insTGGGTGTGTTTGGGG XP_016884049.1:n.1132-80_1132-79insTGGGTGTGTTTGGGG
XM_017028561.2:c.346-80_346-79insTGGGTGTGTTTGGGG XP_016884050.1:n.346-80_346-79insTGGGTGTGTTTGGGG
XM_024452148.1:c.1039-80_1039-79insTGGGTGTGTTTGGGG XP_024307916.1:n.1039-80_1039-79insTGGGTGTGTTTGGGG
XM_024452149.1:c.1039-1194_1039-1193insTGGGTGTGTTTGGGG XP_024307917.1:n.1039-1194_1039-1193insTGGGTGTGTTTGGGG
XR_937805.2:n.1179-80_1179-79insTGGGTGTGTTTGGGG
XR_937806.2:n.1179-1194_1179-1193insTGGGTGTGTTTGGGG
XR_937807.2:n.1241_1242insTGGGTGTGTTTGGGG
NM_001005735.2:c.1138-80_1138-79insTGGGTGTGTTTGGGG NP_001005735.1:n.1138-80_1138-79insTGGGTGTGTTTGGGG
NM_001257387.2:c.346-80_346-79insTGGGTGTGTTTGGGG NP_001244316.1:n.346-80_346-79insTGGGTGTGTTTGGGG
NM_001349956.2:c.808-80_808-79insTGGGTGTGTTTGGGG NP_001336885.1:n.808-80_808-79insTGGGTGTGTTTGGGG
Search 100 bp 5'
Search 100 bp 3'