Canonical Allele Identifier: CA3000291660
Community Standard Title: NM_001370466.1(NOD2):c.918_919del (p.Cys306TrpfsTer18)
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50710910_50710911del , CM000678.2:g.50710910_50710911del GRCh38
NC_000016.9:g.50744821_50744822del , CM000678.1:g.50744821_50744822del GRCh37
NC_000016.8:g.49302322_49302323del NCBI36
NG_007508.1:g.18772_18773del , LRG_177:g.18772_18773del

Transcript Alleles

HGVS Amino-acid Change
NM_001370466.1:c.918_919del MANE Select NP_001357395.1:p.Cys306TrpfsTer18
ENST00000647318.2:c.918_919del MANE Select ENSP00000495993.1:p.Cys306TrpfsTer18
NM_001293557.1:c.918_919del NP_001280486.1:p.Cys306TrpfsTer18
NM_001293557.2:c.918_919del NP_001280486.1:p.Cys306TrpfsTer18
NM_022162.2:c.999_1000del NP_071445.1:p.Cys333TrpfsTer18
NM_022162.3:c.999_1000del NP_071445.1:p.Cys333TrpfsTer18
NR_163434.1:n.983_984del
ENST00000300589.6:c.999_1000del ENSP00000300589.2:p.Cys333TrpfsTer18
ENST00000526417.6:n.1059_1060del
ENST00000641284.1:c.918_919del ENSP00000493088.1:p.Cys306TrpfsTer18
ENST00000641284.2:c.918_919del ENSP00000493088.1:p.Cys306TrpfsTer18
ENST00000646677.1:c.918_919del ENSP00000496533.1:p.Cys306TrpfsTer18
ENST00000646677.2:c.918_919del ENSP00000496533.1:p.Cys306TrpfsTer18
XM_005256084.2:c.918_919del XP_005256141.1:p.Cys306TrpfsTer18
XM_005256084.4:c.918_919del XP_005256141.1:p.Cys306TrpfsTer18
XM_006721242.2:c.918_919del XP_006721305.1:p.Cys306TrpfsTer18
XM_006721242.4:c.918_919del XP_006721305.1:p.Cys306TrpfsTer18
XM_006721243.2:c.918_919del XP_006721306.1:p.Cys306TrpfsTer18
XM_006721243.4:c.918_919del XP_006721306.1:p.Cys306TrpfsTer18
XM_011523257.1:c.495_496del XP_011521559.1:p.Cys165TrpfsTer18
XM_011523258.1:c.495_496del XP_011521560.1:p.Cys165TrpfsTer18
XM_011523259.1:c.333_334del XP_011521561.1:p.Cys111TrpfsTer18
XM_011523259.2:c.333_334del XP_011521561.1:p.Cys111TrpfsTer18
XM_011523260.1:c.918_919del XP_011521562.1:p.Cys306TrpfsTer18
XM_011523260.3:c.918_919del XP_011521562.1:p.Cys306TrpfsTer18
XM_011523261.1:c.918_919del XP_011521563.1:p.Cys306TrpfsTer18
XM_011523261.2:c.918_919del XP_011521563.1:p.Cys306TrpfsTer18
XM_017023535.1:c.426_427del XP_016879024.1:p.Cys142TrpfsTer18
XM_017023536.1:c.333_334del XP_016879025.1:p.Cys111TrpfsTer18
XM_017023537.1:c.333_334del XP_016879026.1:p.Cys111TrpfsTer18
XM_017023538.1:c.333_334del XP_016879027.1:p.Cys111TrpfsTer18
XR_429725.2:n.1008_1009del
XR_429725.3:n.961_962del
XR_429726.2:n.1008_1009del
XR_429726.3:n.961_962del
XR_933387.1:n.1008_1009del
XR_933387.2:n.961_962del