Canonical Allele Identifier: CA2655952789
Gene: CHEK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28689101_28689108del , CM000684.2:g.28689101_28689108del GRCh38
NC_000022.10:g.29085089_29085096del , CM000684.1:g.29085089_29085096del GRCh37
NC_000022.9:g.27415089_27415096del NCBI36
NG_008150.1:g.57727_57734del
NG_008150.2:g.57759_57766del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.*277+27_*277+34del ENSP00000518557.1:n.*277+27_*277+34del
ENST00000402731.6:c.1341+27_1341+34del ENSP00000384835.2:n.1341+27_1341+34del
ENST00000404276.6:c.1542+27_1542+34del MANE Select ENSP00000385747.1:n.1542+27_1542+34del
ENST00000425190.7:c.879+27_879+34del ENSP00000390244.2:n.879+27_879+34del
ENST00000464581.6:c.882+27_882+34del ENSP00000483777.2:n.882+27_882+34del
ENST00000648295.1:n.1094+27_1094+34del
ENST00000649563.1:c.879+27_879+34del ENSP00000496928.1:n.879+27_879+34del
ENST00000650281.1:c.1542+27_1542+34del ENSP00000497000.1:n.1542+27_1542+34del
ENST00000328354.10:c.1542+27_1542+34del ENSP00000329178.6:n.1542+27_1542+34del
ENST00000348295.7:c.1455+27_1455+34del ENSP00000329012.5:n.1455+27_1455+34del
ENST00000382580.6:c.1671+27_1671+34del ENSP00000372023.2:n.1671+27_1671+34del
ENST00000402731.5:c.1455+27_1455+34del ENSP00000384835.1:n.1455+27_1455+34del
ENST00000403642.5:c.1269+27_1269+34del ENSP00000384919.1:n.1269+27_1269+34del
ENST00000404276.5:c.1542+27_1542+34del ENSP00000385747.1:n.1542+27_1542+34del
ENST00000405598.5:c.1542+27_1542+34del ENSP00000386087.1:n.1542+27_1542+34del
ENST00000416671.5:c.*1032+27_*1032+34del ENSP00000402225.1:n.*1032+27_*1032+34del
ENST00000417588.5:c.1451+27_1451+34del ENSP00000412901.1:n.1451+27_1451+34del
ENST00000433728.5:c.1480+27_1480+34del ENSP00000404400.1:n.1480+27_1480+34del
ENST00000434810.5:c.740+27_740+34del
ENST00000448511.5:c.1432+27_1432+34del ENSP00000404567.1:n.1432+27_1432+34del
ENST00000456369.5:c.344+27_344+34del
ENST00000472807.1:n.276+27_276+34del
NM_001005735.1:c.1671+27_1671+34del NP_001005735.1:n.1671+27_1671+34del
NM_001257387.1:c.879+27_879+34del NP_001244316.1:n.879+27_879+34del
NM_007194.3:c.1542+27_1542+34del NP_009125.1:n.1542+27_1542+34del
NM_145862.2:c.1455+27_1455+34del NP_665861.1:n.1455+27_1455+34del
XM_006724114.2:c.1062+27_1062+34del XP_006724177.1:n.1062+27_1062+34del
XM_006724116.2:c.999+27_999+34del XP_006724179.2:n.999+27_999+34del
XM_011529839.1:c.1701+27_1701+34del XP_011528141.1:n.1701+27_1701+34del
XM_011529840.1:c.1614+27_1614+34del XP_011528142.1:n.1614+27_1614+34del
XM_011529841.1:c.1470+27_1470+34del XP_011528143.1:n.1470+27_1470+34del
XM_011529842.1:c.1371+27_1371+34del XP_011528144.1:n.1371+27_1371+34del
XM_011529843.1:c.1341+27_1341+34del XP_011528145.1:n.1341+27_1341+34del
XM_011529845.1:c.879+27_879+34del XP_011528147.1:n.879+27_879+34del
XR_937805.1:n.1701+27_1701+34del
NM_001349956.1:c.1341+27_1341+34del NP_001336885.1:n.1341+27_1341+34del
NM_007194.4:c.1542+27_1542+34del MANE Select NP_009125.1:n.1542+27_1542+34del
XM_006724114.3:c.1095+27_1095+34del XP_006724177.2:n.1095+27_1095+34del
XM_011529839.2:c.1701+27_1701+34del XP_011528141.1:n.1701+27_1701+34del
XM_011529840.3:c.1614+27_1614+34del XP_011528142.1:n.1614+27_1614+34del
XM_011529842.2:c.1371+27_1371+34del XP_011528144.1:n.1371+27_1371+34del
XM_011529845.2:c.879+27_879+34del XP_011528147.1:n.879+27_879+34del
XM_017028560.1:c.1665+27_1665+34del XP_016884049.1:n.1665+27_1665+34del
XM_017028561.2:c.879+27_879+34del XP_016884050.1:n.879+27_879+34del
XM_024452148.1:c.1572+27_1572+34del XP_024307916.1:n.1572+27_1572+34del
XM_024452149.1:c.1485+27_1485+34del XP_024307917.1:n.1485+27_1485+34del
XR_937805.2:n.1712+27_1712+34del
NM_001005735.2:c.1671+27_1671+34del NP_001005735.1:n.1671+27_1671+34del
NM_001257387.2:c.879+27_879+34del NP_001244316.1:n.879+27_879+34del
NM_001349956.2:c.1341+27_1341+34del NP_001336885.1:n.1341+27_1341+34del