Canonical Allele Identifier: CA1139666367
Community Standard Title: NM_007194.4(CHEK2):c.733_736del (p.Lys245Ter)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28711968_28711971del , CM000684.2:g.28711968_28711971del GRCh38
NC_000022.10:g.29107956_29107959del , CM000684.1:g.29107956_29107959del GRCh37
NC_000022.9:g.27437956_27437959del NCBI36
NG_008150.1:g.34867_34870del
NG_008150.2:g.34899_34902del

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.733_736del MANE Select NP_009125.1:p.Lys245Ter
ENST00000404276.6:c.733_736del MANE Select ENSP00000385747.1:p.Lys245Ter
NM_001005735.1:c.862_865del NP_001005735.1:p.Lys288Ter
NM_001005735.2:c.862_865del NP_001005735.1:p.Lys288Ter
NM_001257387.1:c.70_73del NP_001244316.1:p.Lys24Ter
NM_001257387.2:c.70_73del NP_001244316.1:p.Lys24Ter
NM_001349956.1:c.532_535del NP_001336885.1:p.Lys178Ter
NM_001349956.2:c.532_535del NP_001336885.1:p.Lys178Ter
NM_007194.3:c.733_736del NP_009125.1:p.Lys245Ter
NM_145862.2:c.733_736del NP_665861.1:p.Lys245Ter
ENST00000328354.10:c.733_736del ENSP00000329178.6:p.Lys245Ter
ENST00000348295.7:c.733_736del ENSP00000329012.5:p.Lys245Ter
ENST00000382580.6:c.862_865del ENSP00000372023.2:p.Lys288Ter
ENST00000402731.5:c.733_736del ENSP00000384835.1:p.Lys245Ter
ENST00000402731.6:c.532_535del ENSP00000384835.2:p.Lys178Ter
ENST00000403642.5:c.460_463del ENSP00000384919.1:p.Lys154Ter
ENST00000404276.5:c.733_736del ENSP00000385747.1:p.Lys245Ter
ENST00000405598.5:c.733_736del ENSP00000386087.1:p.Lys245Ter
ENST00000416671.5:c.*223_*226del ENSP00000402225.1:n.*223_*226del
ENST00000417588.5:c.642_645del ENSP00000412901.1:n.642_645del
ENST00000425190.6:c.70_73del ENSP00000390244.1:p.Lys24Ter
ENST00000425190.7:c.70_73del ENSP00000390244.2:p.Lys24Ter
ENST00000433028.6:c.*458_*461del ENSP00000403659.1:n.*458_*461del
ENST00000433728.5:c.733_736del ENSP00000404400.1:p.Lys245Ter
ENST00000439200.5:c.826_829del ENSP00000408065.1:p.Lys276Ter
ENST00000439346.5:c.204_207del ENSP00000396903.1:n.204_207del
ENST00000439346.6:c.642_645del ENSP00000396903.2:n.642_645del
ENST00000447421.5:c.532_535del ENSP00000397478.2:p.Lys178Ter
ENST00000448511.5:c.623_626del ENSP00000404567.1:n.623_626del
ENST00000464581.5:c.73_76del ENSP00000483777.1:p.Lys25Ter
ENST00000464581.6:c.73_76del ENSP00000483777.2:p.Lys25Ter
ENST00000491919.5:n.290_293del
ENST00000648295.1:n.285_288del
ENST00000649563.1:c.70_73del ENSP00000496928.1:p.Lys24Ter
ENST00000650281.1:c.733_736del ENSP00000497000.1:p.Lys245Ter
ENST00000711048.1:c.733_736del ENSP00000518557.1:p.Lys245Ter
XM_006724114.2:c.253_256del XP_006724177.1:p.Lys85Ter
XM_006724114.3:c.286_289del XP_006724177.2:p.Lys96Ter
XM_006724116.2:c.190_193del XP_006724179.2:p.Lys64Ter
XM_011529839.1:c.892_895del XP_011528141.1:p.Lys298Ter
XM_011529839.2:c.892_895del XP_011528141.1:p.Lys298Ter
XM_011529840.1:c.892_895del XP_011528142.1:p.Lys298Ter
XM_011529840.3:c.892_895del XP_011528142.1:p.Lys298Ter
XM_011529841.1:c.661_664del XP_011528143.1:p.Lys221Ter
XM_011529842.1:c.562_565del XP_011528144.1:p.Lys188Ter
XM_011529842.2:c.562_565del XP_011528144.1:p.Lys188Ter
XM_011529843.1:c.532_535del XP_011528145.1:p.Lys178Ter
XM_011529844.1:c.892_895del XP_011528146.1:p.Lys298Ter
XM_011529844.2:c.892_895del XP_011528146.1:p.Lys298Ter
XM_011529845.1:c.70_73del XP_011528147.1:p.Lys24Ter
XM_011529845.2:c.70_73del XP_011528147.1:p.Lys24Ter
XM_017028560.1:c.856_859del XP_016884049.1:p.Lys286Ter
XM_017028561.2:c.70_73del XP_016884050.1:p.Lys24Ter
XM_024452148.1:c.763_766del XP_024307916.1:p.Lys255Ter
XM_024452149.1:c.763_766del XP_024307917.1:p.Lys255Ter
XR_937805.1:n.954_957del
XR_937805.2:n.965_968del
XR_937806.1:n.949_952del
XR_937806.2:n.965_968del
XR_937807.1:n.949_952del
XR_937807.2:n.965_968del