Canonical Allele Identifier: CA2511086698
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50699911_50699912insGCTT , CM000678.2:g.50699911_50699912insGCTT GRCh38
NC_000016.9:g.50733822_50733823insGCTT , CM000678.1:g.50733822_50733823insGCTT GRCh37
NC_000016.8:g.49291323_49291324insGCTT NCBI36
NG_007508.1:g.7773_7774insGCTT , LRG_177:g.7773_7774insGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000641284.2:c.416_417insGCTT ENSP00000493088.1:p.Cys140LeufsTer3
ENST00000646677.2:c.416_417insGCTT ENSP00000496533.1:p.Cys140LeufsTer3
ENST00000641284.1:c.416_417insGCTT ENSP00000493088.1:p.Cys140LeufsTer3
ENST00000646677.1:c.416_417insGCTT ENSP00000496533.1:p.Cys140LeufsTer3
ENST00000647318.2:c.416_417insGCTT MANE Select ENSP00000495993.1:p.Cys140LeufsTer3
ENST00000300589.6:c.497_498insGCTT ENSP00000300589.2:p.Cys167LeufsTer3
ENST00000526417.6:n.484_485insGCTT
ENST00000527070.5:c.*1112_*1113insGCTT ENSP00000435149.1:n.*1112_*1113insGCTT
ENST00000531674.1:c.416_417insGCTT ENSP00000431681.1:p.Cys140LeufsTer3
ENST00000532206.1:n.601_602insGCTT
NM_001293557.1:c.416_417insGCTT NP_001280486.1:p.Cys140LeufsTer3
NM_022162.2:c.497_498insGCTT NP_071445.1:p.Cys167LeufsTer3
XM_005256084.2:c.416_417insGCTT XP_005256141.1:p.Cys140LeufsTer3
XM_006721242.2:c.416_417insGCTT XP_006721305.1:p.Cys140LeufsTer3
XM_006721243.2:c.416_417insGCTT XP_006721306.1:p.Cys140LeufsTer3
XM_011523257.1:c.-81_-80insGCTT XP_011521559.1:n.-81_-80insGCTT
XM_011523258.1:c.-38+6249_-38+6250insGCTT XP_011521560.1:n.-38+6249_-38+6250insGCTT
XM_011523259.1:c.-64_-63insGCTT XP_011521561.1:n.-64_-63insGCTT
XM_011523260.1:c.416_417insGCTT XP_011521562.1:p.Cys140LeufsTer3
XM_011523261.1:c.416_417insGCTT XP_011521563.1:p.Cys140LeufsTer3
XR_429725.2:n.506_507insGCTT
XR_429726.2:n.506_507insGCTT
XR_933387.1:n.506_507insGCTT
XM_005256084.4:c.416_417insGCTT XP_005256141.1:p.Cys140LeufsTer3
XM_006721242.4:c.416_417insGCTT XP_006721305.1:p.Cys140LeufsTer3
XM_006721243.4:c.416_417insGCTT XP_006721306.1:p.Cys140LeufsTer3
XM_011523259.2:c.-64_-63insGCTT XP_011521561.1:n.-64_-63insGCTT
XM_011523260.3:c.416_417insGCTT XP_011521562.1:p.Cys140LeufsTer3
XM_011523261.2:c.416_417insGCTT XP_011521563.1:p.Cys140LeufsTer3
XM_017023536.1:c.-127+6249_-127+6250insGCTT XP_016879025.1:n.-127+6249_-127+6250insGCTT
XM_017023537.1:c.-21+6249_-21+6250insGCTT XP_016879026.1:n.-21+6249_-21+6250insGCTT
XR_429725.3:n.459_460insGCTT
XR_429726.3:n.459_460insGCTT
XR_933387.2:n.459_460insGCTT
NM_001293557.2:c.416_417insGCTT NP_001280486.1:p.Cys140LeufsTer3
NM_001370466.1:c.416_417insGCTT MANE Select NP_001357395.1:p.Cys140LeufsTer3
NM_022162.3:c.497_498insGCTT NP_071445.1:p.Cys167LeufsTer3
NR_163434.1:n.481_482insGCTT