Canonical Allele Identifier: CA977236208

Gene: NOD2

Linked Data

• gnomAD v3: 16-50699921-A-ACGGCG
• gnomAD v4: 16-50699921-A-ACGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699921_50699922insCGGCG , CM000678.2:g.50699921_50699922insCGGCG	GRCh38
NC_000016.9:g.50733832_50733833insCGGCG , CM000678.1:g.50733832_50733833insCGGCG	GRCh37
NC_000016.8:g.49291333_49291334insCGGCG	NCBI36
NG_007508.1:g.7783_7784insCGGCG , LRG_177:g.7783_7784insCGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.426_427insCGGCG	ENSP00000493088.1:p.Ile143ArgfsTer23
ENST00000646677.2:c.426_427insCGGCG	ENSP00000496533.1:p.Ile143ArgfsTer23
ENST00000641284.1:c.426_427insCGGCG	ENSP00000493088.1:p.Ile143ArgfsTer23
ENST00000646677.1:c.426_427insCGGCG	ENSP00000496533.1:p.Ile143ArgfsTer23
ENST00000647318.2:c.426_427insCGGCG MANE Select	ENSP00000495993.1:p.Ile143ArgfsTer23
ENST00000300589.6:c.507_508insCGGCG	ENSP00000300589.2:p.Ile170ArgfsTer23
ENST00000526417.6:n.494_495insCGGCG
ENST00000527070.5:c.*1122_*1123insCGGCG	ENSP00000435149.1:n.*1122_*1123insCGGCG
ENST00000531674.1:c.426_427insCGGCG	ENSP00000431681.1:p.Ile143ArgfsTer?
ENST00000532206.1:n.611_612insCGGCG
NM_001293557.1:c.426_427insCGGCG	NP_001280486.1:p.Ile143ArgfsTer23
NM_022162.2:c.507_508insCGGCG	NP_071445.1:p.Ile170ArgfsTer23
XM_005256084.2:c.426_427insCGGCG	XP_005256141.1:p.Ile143ArgfsTer23
XM_006721242.2:c.426_427insCGGCG	XP_006721305.1:p.Ile143ArgfsTer23
XM_006721243.2:c.426_427insCGGCG	XP_006721306.1:p.Ile143ArgfsTer23
XM_011523257.1:c.-71_-70insCGGCG	XP_011521559.1:n.-71_-70insCGGCG
XM_011523258.1:c.-38+6259_-38+6260insCGGCG	XP_011521560.1:n.-38+6259_-38+6260insCGGCG
XM_011523259.1:c.-54_-53insCGGCG	XP_011521561.1:n.-54_-53insCGGCG
XM_011523260.1:c.426_427insCGGCG	XP_011521562.1:p.Ile143ArgfsTer23
XM_011523261.1:c.426_427insCGGCG	XP_011521563.1:p.Ile143ArgfsTer23
XR_429725.2:n.516_517insCGGCG
XR_429726.2:n.516_517insCGGCG
XR_933387.1:n.516_517insCGGCG
XM_005256084.4:c.426_427insCGGCG	XP_005256141.1:p.Ile143ArgfsTer23
XM_006721242.4:c.426_427insCGGCG	XP_006721305.1:p.Ile143ArgfsTer23
XM_006721243.4:c.426_427insCGGCG	XP_006721306.1:p.Ile143ArgfsTer23
XM_011523259.2:c.-54_-53insCGGCG	XP_011521561.1:n.-54_-53insCGGCG
XM_011523260.3:c.426_427insCGGCG	XP_011521562.1:p.Ile143ArgfsTer23
XM_011523261.2:c.426_427insCGGCG	XP_011521563.1:p.Ile143ArgfsTer23
XM_017023536.1:c.-127+6259_-127+6260insCGGCG	XP_016879025.1:n.-127+6259_-127+6260insCGGCG
XM_017023537.1:c.-21+6259_-21+6260insCGGCG	XP_016879026.1:n.-21+6259_-21+6260insCGGCG
XR_429725.3:n.469_470insCGGCG
XR_429726.3:n.469_470insCGGCG
XR_933387.2:n.469_470insCGGCG
NM_001293557.2:c.426_427insCGGCG	NP_001280486.1:p.Ile143ArgfsTer23
NM_001370466.1:c.426_427insCGGCG MANE Select	NP_001357395.1:p.Ile143ArgfsTer23
NM_022162.3:c.507_508insCGGCG	NP_071445.1:p.Ile170ArgfsTer23
NR_163434.1:n.491_492insCGGCG