Canonical Allele Identifier: CA2221842091
Gene: NOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50722869_50722880delinsTTTCTGGGTGAC , CM000678.2:g.50722869_50722880delinsTTTCTGGGTGAC GRCh38
NC_000016.9:g.50756780_50756791delinsTTTCTGGGTGAC , CM000678.1:g.50756780_50756791delinsTTTCTGGGTGAC GRCh37
NC_000016.8:g.49314281_49314292delinsTTTCTGGGTGAC NCBI36
NG_007508.1:g.30731_30742delinsTTTCTGGGTGAC , LRG_177:g.30731_30742delinsTTTCTGGGTGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000641284.2:c.2382-6949_2382-6938delinsTTTCTGGGTGAC ENSP00000493088.1:n.2382-6949_2382-6938de...
ENST00000646677.2:c.*482+164_*482+175delinsTTTCTGGGTGAC ENSP00000496533.1:n.*482+164_*482+175deli...
ENST00000697425.1:c.544+164_544+175delinsTTTCTGGGTGAC
ENST00000697426.1:c.432+164_432+175delinsTTTCTGGGTGAC
ENST00000697427.1:c.348+164_348+175delinsTTTCTGGGTGAC
ENST00000697428.1:n.2195+164_2195+175delinsTTTCTGGGTGAC
ENST00000641284.1:c.2382-6949_2382-6938delinsTTTCTGGGTGAC ENSP00000493088.1:n.2382-6949_2382-6938de...
ENST00000646677.1:c.*482+164_*482+175delinsTTTCTGGGTGAC ENSP00000496533.1:n.*482+164_*482+175deli...
ENST00000647318.2:c.2717+164_2717+175delinsTTTCTGGGTGAC MANE Select ENSP00000495993.1:n.2717+164_2717+175deli...
ENST00000300589.6:c.2798+164_2798+175delinsTTTCTGGGTGAC ENSP00000300589.2:n.2798+164_2798+175deli...
ENST00000524712.5:c.292+164_292+175delinsTTTCTGGGTGAC
ENST00000527052.5:c.264+164_264+175delinsTTTCTGGGTGAC
ENST00000529633.5:c.376+164_376+175delinsTTTCTGGGTGAC
ENST00000534057.1:c.432+164_432+175delinsTTTCTGGGTGAC
ENST00000534067.5:c.528+164_528+175delinsTTTCTGGGTGAC
NM_001293557.1:c.2717+164_2717+175delinsTTTCTGGGTGAC NP_001280486.1:n.2717+164_2717+175delinsT...
NM_022162.2:c.2798+164_2798+175delinsTTTCTGGGTGAC NP_071445.1:n.2798+164_2798+175delinsTTTC...
XM_005256084.2:c.2717+164_2717+175delinsTTTCTGGGTGAC XP_005256141.1:n.2717+164_2717+175delinsT...
XM_006721242.2:c.2633+164_2633+175delinsTTTCTGGGTGAC XP_006721305.1:n.2633+164_2633+175delinsT...
XM_011523257.1:c.2294+164_2294+175delinsTTTCTGGGTGAC XP_011521559.1:n.2294+164_2294+175delinsT...
XM_011523258.1:c.2294+164_2294+175delinsTTTCTGGGTGAC XP_011521560.1:n.2294+164_2294+175delinsT...
XM_011523259.1:c.2132+164_2132+175delinsTTTCTGGGTGAC XP_011521561.1:n.2132+164_2132+175delinsT...
XR_429725.2:n.2639+164_2639+175delinsTTTCTGGGTGAC
XR_429726.2:n.2555+164_2555+175delinsTTTCTGGGTGAC
XR_933387.1:n.2835+164_2835+175delinsTTTCTGGGTGAC
XM_005256084.4:c.2717+164_2717+175delinsTTTCTGGGTGAC XP_005256141.1:n.2717+164_2717+175delinsT...
XM_006721242.4:c.2633+164_2633+175delinsTTTCTGGGTGAC XP_006721305.1:n.2633+164_2633+175delinsT...
XM_011523259.2:c.2132+164_2132+175delinsTTTCTGGGTGAC XP_011521561.1:n.2132+164_2132+175delinsT...
XM_017023535.1:c.2225+164_2225+175delinsTTTCTGGGTGAC XP_016879024.1:n.2225+164_2225+175delinsT...
XM_017023536.1:c.2132+164_2132+175delinsTTTCTGGGTGAC XP_016879025.1:n.2132+164_2132+175delinsT...
XM_017023537.1:c.2132+164_2132+175delinsTTTCTGGGTGAC XP_016879026.1:n.2132+164_2132+175delinsT...
XM_017023538.1:c.2132+164_2132+175delinsTTTCTGGGTGAC XP_016879027.1:n.2132+164_2132+175delinsT...
XR_429725.3:n.2592+164_2592+175delinsTTTCTGGGTGAC
XR_429726.3:n.2508+164_2508+175delinsTTTCTGGGTGAC
XR_933387.2:n.2788+164_2788+175delinsTTTCTGGGTGAC
NM_001293557.2:c.2717+164_2717+175delinsTTTCTGGGTGAC NP_001280486.1:n.2717+164_2717+175delinsT...
NM_001370466.1:c.2717+164_2717+175delinsTTTCTGGGTGAC MANE Select NP_001357395.1:n.2717+164_2717+175delinsT...
NM_022162.3:c.2798+164_2798+175delinsTTTCTGGGTGAC NP_071445.1:n.2798+164_2798+175delinsTTTC...
NR_163434.1:n.2929+164_2929+175delinsTTTCTGGGTGAC