Canonical Allele Identifier: CA2581463431

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28696903_28699939del , CM000684.2:g.28696903_28699939del	GRCh38
NC_000022.10:g.29092891_29095927del , CM000684.1:g.29092891_29095927del	GRCh37
NC_000022.9:g.27422891_27425927del	NCBI36
NG_008150.1:g.46899_49935del
NG_008150.2:g.46931_49967del

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.910_1009-1658del
ENST00000402731.6:c.709_894+1del
ENST00000404276.6:c.910_1095+1del
ENST00000425190.7:c.247_432+1del
ENST00000464581.6:c.250_435+1del
ENST00000648295.1:n.462_647+1del
ENST00000649563.1:c.247_432+1del
ENST00000650281.1:c.910_1095+1del
ENST00000328354.10:c.910_1095+1del
ENST00000348295.7:c.910_1009-1027del
ENST00000382580.6:c.1039_1224+1del
ENST00000402731.5:c.910_1009-1027del
ENST00000403642.5:c.637_822+1del
ENST00000404276.5:c.910_1095+1del
ENST00000405598.5:c.910_1095+1del
ENST00000416671.5:c.*400_*585+1del
ENST00000417588.5:c.819_1004+1del
ENST00000433728.5:c.848_1033+1del
ENST00000434810.5:c.141_326+1del
ENST00000448511.5:c.800_985+1del
ENST00000456369.5:c.165_263+2938del
NM_001005735.1:c.1039_1224+1del
NM_001257387.1:c.247_432+1del
NM_007194.3:c.910_1095+1del
NM_145862.2:c.910_1009-1027del
XM_006724114.2:c.430_615+1del
XM_006724116.2:c.367_552+1del
XM_011529839.1:c.1069_1254+1del
XM_011529840.1:c.1069_1168-1027del
XM_011529841.1:c.838_1023+1del
XM_011529842.1:c.739_924+1del
XM_011529843.1:c.709_894+1del
XM_011529845.1:c.247_432+1del
XR_937805.1:n.1069_1254+1del
XR_937806.1:n.1064_1163-1027del
NM_001349956.1:c.709_894+1del
NM_007194.4:c.910_1095+1del
XM_006724114.3:c.463_648+1del
XM_011529839.2:c.1069_1254+1del
XM_011529840.3:c.1069_1168-1027del
XM_011529842.2:c.739_924+1del
XM_011529845.2:c.247_432+1del
XM_017028560.1:c.1033_1218+1del
XM_017028561.2:c.247_432+1del
XM_024452148.1:c.940_1125+1del
XM_024452149.1:c.940_1039-1027del
XR_937805.2:n.1080_1265+1del
XR_937806.2:n.1080_1179-1027del
NM_001005735.2:c.1039_1224+1del
NM_001257387.2:c.247_432+1del
NM_001349956.2:c.709_894+1del