Canonical Allele Identifier: CA411097213

Gene: CHEK2

Linked Data

• MyVariant Identifiers: chr22:g.28695870del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695870del , CM000684.2:g.28695870del	GRCh38
NC_000022.10:g.29091858del , CM000684.1:g.29091858del	GRCh37
NC_000022.9:g.27421858del	NCBI36
NG_008150.1:g.50965del
NG_008150.2:g.50997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-628del	ENSP00000518557.1:n.1009-628del
ENST00000402731.6:c.898del	ENSP00000384835.2:p.Thr300LeufsTer15
ENST00000404276.6:c.1099del MANE Select	ENSP00000385747.1:p.Thr367LeufsTer15
ENST00000425190.7:c.436del	ENSP00000390244.2:p.Thr146LeufsTer15
ENST00000464581.6:c.439del	ENSP00000483777.2:p.Thr147LeufsTer15
ENST00000648295.1:n.651del
ENST00000649563.1:c.436del	ENSP00000496928.1:p.Thr146LeufsTer15
ENST00000650281.1:c.1099del	ENSP00000497000.1:p.Thr367LeufsTer15
ENST00000328354.10:c.1099del	ENSP00000329178.6:p.Thr367LeufsTer15
ENST00000348295.7:c.1012del	ENSP00000329012.5:p.Thr338LeufsTer15
ENST00000382580.6:c.1228del	ENSP00000372023.2:p.Thr410LeufsTer15
ENST00000402731.5:c.1012del	ENSP00000384835.1:p.Thr338LeufsTer15
ENST00000403642.5:c.826del	ENSP00000384919.1:p.Thr276LeufsTer15
ENST00000404276.5:c.1099del	ENSP00000385747.1:p.Thr367LeufsTer15
ENST00000405598.5:c.1099del	ENSP00000386087.1:p.Thr367LeufsTer15
ENST00000416671.5:c.*589del	ENSP00000402225.1:n.*589del
ENST00000417588.5:c.1008del	ENSP00000412901.1:n.1008del
ENST00000433728.5:c.1037del	ENSP00000404400.1:n.1037del
ENST00000434810.5:c.330del
ENST00000448511.5:c.989del	ENSP00000404567.1:n.989del
ENST00000456369.5:c.263+3968del
NM_001005735.1:c.1228del	NP_001005735.1:p.Thr410LeufsTer15
NM_001257387.1:c.436del	NP_001244316.1:p.Thr146LeufsTer15
NM_007194.3:c.1099del	NP_009125.1:p.Thr367LeufsTer15
NM_145862.2:c.1012del	NP_665861.1:p.Thr338LeufsTer15
XM_006724114.2:c.619del	XP_006724177.1:p.Thr207LeufsTer15
XM_006724116.2:c.556del	XP_006724179.2:p.Thr186LeufsTer15
XM_011529839.1:c.1258del	XP_011528141.1:p.Thr420LeufsTer15
XM_011529840.1:c.1171del	XP_011528142.1:p.Thr391LeufsTer15
XM_011529841.1:c.1027del	XP_011528143.1:p.Thr343LeufsTer15
XM_011529842.1:c.928del	XP_011528144.1:p.Thr310LeufsTer15
XM_011529843.1:c.898del	XP_011528145.1:p.Thr300LeufsTer15
XM_011529845.1:c.436del	XP_011528147.1:p.Thr146LeufsTer15
XR_937805.1:n.1258del
XR_937806.1:n.1166del
NM_001349956.1:c.898del	NP_001336885.1:p.Thr300LeufsTer15
NM_007194.4:c.1099del MANE Select	NP_009125.1:p.Thr367LeufsTer15
XM_006724114.3:c.652del	XP_006724177.2:p.Thr218LeufsTer15
XM_011529839.2:c.1258del	XP_011528141.1:p.Thr420LeufsTer15
XM_011529840.3:c.1171del	XP_011528142.1:p.Thr391LeufsTer15
XM_011529842.2:c.928del	XP_011528144.1:p.Thr310LeufsTer15
XM_011529845.2:c.436del	XP_011528147.1:p.Thr146LeufsTer15
XM_017028560.1:c.1222del	XP_016884049.1:p.Thr408LeufsTer15
XM_017028561.2:c.436del	XP_016884050.1:p.Thr146LeufsTer15
XM_024452148.1:c.1129del	XP_024307916.1:p.Thr377LeufsTer15
XM_024452149.1:c.1042del	XP_024307917.1:p.Thr348LeufsTer15
XR_937805.2:n.1269del
XR_937806.2:n.1182del
NM_001005735.2:c.1228del	NP_001005735.1:p.Thr410LeufsTer15
NM_001257387.2:c.436del	NP_001244316.1:p.Thr146LeufsTer15
NM_001349956.2:c.898del	NP_001336885.1:p.Thr300LeufsTer15