Canonical Allele Identifier: CA2499226066
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1285424
ClinVar RCV Id: RCV001706780

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696851_28699987del , CM000684.2:g.28696851_28699987del GRCh38
NC_000022.10:g.29092839_29095975del , CM000684.1:g.29092839_29095975del GRCh37
NC_000022.9:g.27422839_27425975del NCBI36
NG_008150.1:g.46849_49985del
NG_008150.2:g.46881_50017del

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.909-49_1009-1608del
ENST00000402731.6:c.708-49_894+51del
ENST00000404276.6:c.909-49_1095+51del
ENST00000425190.7:c.246-49_432+51del
ENST00000464581.6:c.249-49_435+51del
ENST00000648295.1:n.461-49_647+51del
ENST00000649563.1:c.246-49_432+51del
ENST00000650281.1:c.909-49_1095+51del
ENST00000328354.10:c.909-49_1095+51del
ENST00000348295.7:c.909-49_1009-977del
ENST00000382580.6:c.1038-49_1224+51del
ENST00000402731.5:c.909-49_1009-977del
ENST00000403642.5:c.636-49_822+51del
ENST00000404276.5:c.909-49_1095+51del
ENST00000405598.5:c.909-49_1095+51del
ENST00000416671.5:c.*399-49_*585+51del
ENST00000417588.5:c.818-49_1004+51del
ENST00000433728.5:c.847-49_1033+51del
ENST00000434810.5:c.140-49_326+51del
ENST00000448511.5:c.799-49_985+51del
ENST00000456369.5:c.164-49_263+2988del
NM_001005735.1:c.1038-49_1224+51del
NM_001257387.1:c.246-49_432+51del
NM_007194.3:c.909-49_1095+51del
NM_145862.2:c.909-49_1009-977del
XM_006724114.2:c.429-49_615+51del
XM_006724116.2:c.366-49_552+51del
XM_011529839.1:c.1068-49_1254+51del
XM_011529840.1:c.1068-49_1168-977del
XM_011529841.1:c.837-49_1023+51del
XM_011529842.1:c.738-49_924+51del
XM_011529843.1:c.708-49_894+51del
XM_011529845.1:c.246-49_432+51del
XR_937805.1:n.1068-49_1254+51del
XR_937806.1:n.1063-49_1163-977del
NM_001349956.1:c.708-49_894+51del
NM_007194.4:c.909-49_1095+51del
XM_006724114.3:c.462-49_648+51del
XM_011529839.2:c.1068-49_1254+51del
XM_011529840.3:c.1068-49_1168-977del
XM_011529842.2:c.738-49_924+51del
XM_011529845.2:c.246-49_432+51del
XM_017028560.1:c.1032-49_1218+51del
XM_017028561.2:c.246-49_432+51del
XM_024452148.1:c.939-49_1125+51del
XM_024452149.1:c.939-49_1039-977del
XR_937805.2:n.1079-49_1265+51del
XR_937806.2:n.1079-49_1179-977del
NM_001005735.2:c.1038-49_1224+51del
NM_001257387.2:c.246-49_432+51del
NM_001349956.2:c.708-49_894+51del