Canonical Allele Identifier: CA3000292088

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699781_50699782insTGG , CM000678.2:g.50699781_50699782insTGG	GRCh38
NC_000016.9:g.50733692_50733693insTGG , CM000678.1:g.50733692_50733693insTGG	GRCh37
NC_000016.8:g.49291193_49291194insTGG	NCBI36
NG_007508.1:g.7643_7644insTGG , LRG_177:g.7643_7644insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.286_287insTGG	ENSP00000493088.1:p.Trp96delinsLeuGly
ENST00000646677.2:c.286_287insTGG	ENSP00000496533.1:p.Trp96delinsLeuGly
ENST00000641284.1:c.286_287insTGG	ENSP00000493088.1:p.Trp96delinsLeuGly
ENST00000646677.1:c.286_287insTGG	ENSP00000496533.1:p.Trp96delinsLeuGly
ENST00000647318.2:c.286_287insTGG MANE Select	ENSP00000495993.1:p.Trp96delinsLeuGly
ENST00000300589.6:c.367_368insTGG	ENSP00000300589.2:p.Trp123delinsLeuGly
ENST00000526417.6:n.354_355insTGG
ENST00000527070.5:c.*982_*983insTGG	ENSP00000435149.1:n.*982_*983insTGG
ENST00000531674.1:c.286_287insTGG	ENSP00000431681.1:p.Trp96delinsLeuGly
ENST00000532206.1:n.471_472insTGG
NM_001293557.1:c.286_287insTGG	NP_001280486.1:p.Trp96delinsLeuGly
NM_022162.2:c.367_368insTGG	NP_071445.1:p.Trp123delinsLeuGly
XM_005256084.2:c.286_287insTGG	XP_005256141.1:p.Trp96delinsLeuGly
XM_006721242.2:c.286_287insTGG	XP_006721305.1:p.Trp96delinsLeuGly
XM_006721243.2:c.286_287insTGG	XP_006721306.1:p.Trp96delinsLeuGly
XM_011523258.1:c.-38+6119_-38+6120insTGG	XP_011521560.1:n.-38+6119_-38+6120insTGG
XM_011523259.1:c.-194_-193insTGG	XP_011521561.1:n.-194_-193insTGG
XM_011523260.1:c.286_287insTGG	XP_011521562.1:p.Trp96delinsLeuGly
XM_011523261.1:c.286_287insTGG	XP_011521563.1:p.Trp96delinsLeuGly
XR_429725.2:n.376_377insTGG
XR_429726.2:n.376_377insTGG
XR_933387.1:n.376_377insTGG
XM_005256084.4:c.286_287insTGG	XP_005256141.1:p.Trp96delinsLeuGly
XM_006721242.4:c.286_287insTGG	XP_006721305.1:p.Trp96delinsLeuGly
XM_006721243.4:c.286_287insTGG	XP_006721306.1:p.Trp96delinsLeuGly
XM_011523259.2:c.-194_-193insTGG	XP_011521561.1:n.-194_-193insTGG
XM_011523260.3:c.286_287insTGG	XP_011521562.1:p.Trp96delinsLeuGly
XM_011523261.2:c.286_287insTGG	XP_011521563.1:p.Trp96delinsLeuGly
XM_017023536.1:c.-127+6119_-127+6120insTGG	XP_016879025.1:n.-127+6119_-127+6120insTGG
XM_017023537.1:c.-21+6119_-21+6120insTGG	XP_016879026.1:n.-21+6119_-21+6120insTGG
XR_429725.3:n.329_330insTGG
XR_429726.3:n.329_330insTGG
XR_933387.2:n.329_330insTGG
NM_001293557.2:c.286_287insTGG	NP_001280486.1:p.Trp96delinsLeuGly
NM_001370466.1:c.286_287insTGG MANE Select	NP_001357395.1:p.Trp96delinsLeuGly
NM_022162.3:c.367_368insTGG	NP_071445.1:p.Trp123delinsLeuGly
NR_163434.1:n.351_352insTGG