Canonical Allele Identifier: CA2499226057
Community Standard Title: NM_007194.4(CHEK2):c.1324del (p.Ser442ValfsTer27)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695178del , CM000684.2:g.28695178del GRCh38
NC_000022.10:g.29091166del , CM000684.1:g.29091166del GRCh37
NC_000022.9:g.27421166del NCBI36
NG_008150.1:g.51657del
NG_008150.2:g.51689del

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1324del MANE Select NP_009125.1:p.Ser442ValfsTer27
ENST00000404276.6:c.1324del MANE Select ENSP00000385747.1:p.Ser442ValfsTer27
NM_001005735.1:c.1453del NP_001005735.1:p.Ser485ValfsTer27
NM_001005735.2:c.1453del NP_001005735.1:p.Ser485ValfsTer27
NM_001257387.1:c.661del NP_001244316.1:p.Ser221ValfsTer27
NM_001257387.2:c.661del NP_001244316.1:p.Ser221ValfsTer27
NM_001349956.1:c.1123del NP_001336885.1:p.Ser375ValfsTer27
NM_001349956.2:c.1123del NP_001336885.1:p.Ser375ValfsTer27
NM_007194.3:c.1324del NP_009125.1:p.Ser442ValfsTer27
NM_145862.2:c.1237del NP_665861.1:p.Ser413ValfsTer27
ENST00000328354.10:c.1324del ENSP00000329178.6:p.Ser442ValfsTer27
ENST00000348295.7:c.1237del ENSP00000329012.5:p.Ser413ValfsTer27
ENST00000382580.6:c.1453del ENSP00000372023.2:p.Ser485ValfsTer27
ENST00000402731.5:c.1237del ENSP00000384835.1:p.Ser413ValfsTer27
ENST00000402731.6:c.1123del ENSP00000384835.2:p.Ser375ValfsTer27
ENST00000403642.5:c.1051del ENSP00000384919.1:p.Ser351ValfsTer27
ENST00000404276.5:c.1324del ENSP00000385747.1:p.Ser442ValfsTer27
ENST00000405598.5:c.1324del ENSP00000386087.1:p.Ser442ValfsTer27
ENST00000416671.5:c.*814del ENSP00000402225.1:n.*814del
ENST00000417588.5:c.1233del ENSP00000412901.1:n.1233del
ENST00000425190.7:c.661del ENSP00000390244.2:p.Ser221ValfsTer27
ENST00000433728.5:c.1262del ENSP00000404400.1:n.1262del
ENST00000434810.5:c.522del
ENST00000448511.5:c.1214del ENSP00000404567.1:n.1214del
ENST00000456369.5:c.263+4660del
ENST00000464581.6:c.664del ENSP00000483777.2:p.Ser222ValfsTer27
ENST00000648295.1:n.876del
ENST00000649563.1:c.661del ENSP00000496928.1:p.Ser221ValfsTer27
ENST00000650281.1:c.1324del ENSP00000497000.1:p.Ser442ValfsTer27
ENST00000711048.1:c.*59del ENSP00000518557.1:n.*59del
XM_006724114.2:c.844del XP_006724177.1:p.Ser282ValfsTer27
XM_006724114.3:c.877del XP_006724177.2:p.Ser293ValfsTer27
XM_006724116.2:c.781del XP_006724179.2:p.Ser261ValfsTer27
XM_011529839.1:c.1483del XP_011528141.1:p.Ser495ValfsTer27
XM_011529839.2:c.1483del XP_011528141.1:p.Ser495ValfsTer27
XM_011529840.1:c.1396del XP_011528142.1:p.Ser466ValfsTer27
XM_011529840.3:c.1396del XP_011528142.1:p.Ser466ValfsTer27
XM_011529841.1:c.1252del XP_011528143.1:p.Ser418ValfsTer27
XM_011529842.1:c.1153del XP_011528144.1:p.Ser385ValfsTer27
XM_011529842.2:c.1153del XP_011528144.1:p.Ser385ValfsTer27
XM_011529843.1:c.1123del XP_011528145.1:p.Ser375ValfsTer27
XM_011529845.1:c.661del XP_011528147.1:p.Ser221ValfsTer27
XM_011529845.2:c.661del XP_011528147.1:p.Ser221ValfsTer27
XM_017028560.1:c.1447del XP_016884049.1:p.Ser483ValfsTer27
XM_017028561.2:c.661del XP_016884050.1:p.Ser221ValfsTer27
XM_024452148.1:c.1354del XP_024307916.1:p.Ser452ValfsTer27
XM_024452149.1:c.1267del XP_024307917.1:p.Ser423ValfsTer27
XR_937805.1:n.1483del
XR_937805.2:n.1494del