Canonical Allele Identifier: CA2633162840

Gene: NOD2

Linked Data

• gnomAD v4: 16-50699959-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699960_50699961del , CM000678.2:g.50699960_50699961del	GRCh38
NC_000016.9:g.50733871_50733872del , CM000678.1:g.50733871_50733872del	GRCh37
NC_000016.8:g.49291372_49291373del	NCBI36
NG_007508.1:g.7822_7823del , LRG_177:g.7822_7823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.459+6_459+7del	ENSP00000493088.1:n.459+6_459+7del
ENST00000646677.2:c.459+6_459+7del	ENSP00000496533.1:n.459+6_459+7del
ENST00000641284.1:c.459+6_459+7del	ENSP00000493088.1:n.459+6_459+7del
ENST00000646677.1:c.459+6_459+7del	ENSP00000496533.1:n.459+6_459+7del
ENST00000647318.2:c.459+6_459+7del MANE Select	ENSP00000495993.1:n.459+6_459+7del
ENST00000300589.6:c.540+6_540+7del	ENSP00000300589.2:n.540+6_540+7del
ENST00000526417.6:n.527+6_527+7del
ENST00000527070.5:c.*1155+6_*1155+7del	ENSP00000435149.1:n.*1155+6_*1155+7del
ENST00000532206.1:n.644+6_644+7del
NM_001293557.1:c.459+6_459+7del	NP_001280486.1:n.459+6_459+7del
NM_022162.2:c.540+6_540+7del	NP_071445.1:n.540+6_540+7del
XM_005256084.2:c.459+6_459+7del	XP_005256141.1:n.459+6_459+7del
XM_006721242.2:c.459+6_459+7del	XP_006721305.1:n.459+6_459+7del
XM_006721243.2:c.459+6_459+7del	XP_006721306.1:n.459+6_459+7del
XM_011523257.1:c.-38+6_-38+7del	XP_011521559.1:n.-38+6_-38+7del
XM_011523258.1:c.-38+6298_-38+6299del	XP_011521560.1:n.-38+6298_-38+6299del
XM_011523259.1:c.-21+6_-21+7del	XP_011521561.1:n.-21+6_-21+7del
XM_011523260.1:c.459+6_459+7del	XP_011521562.1:n.459+6_459+7del
XM_011523261.1:c.459+6_459+7del	XP_011521563.1:n.459+6_459+7del
XR_429725.2:n.549+6_549+7del
XR_429726.2:n.549+6_549+7del
XR_933387.1:n.549+6_549+7del
XM_005256084.4:c.459+6_459+7del	XP_005256141.1:n.459+6_459+7del
XM_006721242.4:c.459+6_459+7del	XP_006721305.1:n.459+6_459+7del
XM_006721243.4:c.459+6_459+7del	XP_006721306.1:n.459+6_459+7del
XM_011523259.2:c.-21+6_-21+7del	XP_011521561.1:n.-21+6_-21+7del
XM_011523260.3:c.459+6_459+7del	XP_011521562.1:n.459+6_459+7del
XM_011523261.2:c.459+6_459+7del	XP_011521563.1:n.459+6_459+7del
XM_017023536.1:c.-127+6298_-127+6299del	XP_016879025.1:n.-127+6298_-127+6299del
XM_017023537.1:c.-21+6298_-21+6299del	XP_016879026.1:n.-21+6298_-21+6299del
XR_429725.3:n.502+6_502+7del
XR_429726.3:n.502+6_502+7del
XR_933387.2:n.502+6_502+7del
NM_001293557.2:c.459+6_459+7del	NP_001280486.1:n.459+6_459+7del
NM_001370466.1:c.459+6_459+7del MANE Select	NP_001357395.1:n.459+6_459+7del
NM_022162.3:c.540+6_540+7del	NP_071445.1:n.540+6_540+7del
NR_163434.1:n.524+6_524+7del