Canonical Allele Identifier: CA2695223327

Gene: NOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710590_50710605del , CM000678.2:g.50710590_50710605del	GRCh38
NC_000016.9:g.50744501_50744516del , CM000678.1:g.50744501_50744516del	GRCh37
NC_000016.8:g.49302002_49302017del	NCBI36
NG_007508.1:g.18452_18467del , LRG_177:g.18452_18467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.598_613del	ENSP00000493088.1:p.Arg200LeufsTer?
ENST00000646677.2:c.598_613del	ENSP00000496533.1:p.Arg200LeufsTer?
ENST00000641284.1:c.598_613del	ENSP00000493088.1:p.Arg200LeufsTer?
ENST00000646677.1:c.598_613del	ENSP00000496533.1:p.Arg200LeufsTer?
ENST00000647318.2:c.598_613del MANE Select	ENSP00000495993.1:p.Arg200LeufsTer?
ENST00000300589.6:c.679_694del	ENSP00000300589.2:p.Arg227LeufsTer?
ENST00000526417.6:n.739_754del
ENST00000527070.5:c.*1294_*1309del	ENSP00000435149.1:n.*1294_*1309del
ENST00000532206.1:n.677_692del
NM_001293557.1:c.598_613del	NP_001280486.1:p.Arg200LeufsTer?
NM_022162.2:c.679_694del	NP_071445.1:p.Arg227LeufsTer?
XM_005256084.2:c.598_613del	XP_005256141.1:p.Arg200LeufsTer?
XM_006721242.2:c.598_613del	XP_006721305.1:p.Arg200LeufsTer?
XM_006721243.2:c.598_613del	XP_006721306.1:p.Arg200LeufsTer?
XM_011523257.1:c.175_190del	XP_011521559.1:p.Arg59LeufsTer?
XM_011523258.1:c.175_190del	XP_011521560.1:p.Arg59LeufsTer?
XM_011523259.1:c.13_28del	XP_011521561.1:p.Arg5LeufsTer?
XM_011523260.1:c.598_613del	XP_011521562.1:p.Arg200LeufsTer?
XM_011523261.1:c.598_613del	XP_011521563.1:p.Arg200LeufsTer?
XR_429725.2:n.688_703del
XR_429726.2:n.688_703del
XR_933387.1:n.688_703del
XM_005256084.4:c.598_613del	XP_005256141.1:p.Arg200LeufsTer?
XM_006721242.4:c.598_613del	XP_006721305.1:p.Arg200LeufsTer?
XM_006721243.4:c.598_613del	XP_006721306.1:p.Arg200LeufsTer?
XM_011523259.2:c.13_28del	XP_011521561.1:p.Arg5LeufsTer?
XM_011523260.3:c.598_613del	XP_011521562.1:p.Arg200LeufsTer?
XM_011523261.2:c.598_613del	XP_011521563.1:p.Arg200LeufsTer?
XM_017023535.1:c.106_121del	XP_016879024.1:p.Arg36LeufsTer?
XM_017023536.1:c.13_28del	XP_016879025.1:p.Arg5LeufsTer?
XM_017023537.1:c.13_28del	XP_016879026.1:p.Arg5LeufsTer?
XM_017023538.1:c.13_28del	XP_016879027.1:p.Arg5LeufsTer?
XR_429725.3:n.641_656del
XR_429726.3:n.641_656del
XR_933387.2:n.641_656del
NM_001293557.2:c.598_613del	NP_001280486.1:p.Arg200LeufsTer?
NM_001370466.1:c.598_613del MANE Select	NP_001357395.1:p.Arg200LeufsTer?
NM_022162.3:c.679_694del	NP_071445.1:p.Arg227LeufsTer?
NR_163434.1:n.663_678del