Canonical Allele Identifier: CA2595326968

Gene: NOD2

Linked Data

• gnomAD v3: 16-50704021-TG-T
• gnomAD v4: 16-50704021-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50704022del , CM000678.2:g.50704022del	GRCh38
NC_000016.9:g.50737933del , CM000678.1:g.50737933del	GRCh37
NC_000016.8:g.49295434del	NCBI36
NG_007508.1:g.11884del , LRG_177:g.11884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641284.2:c.460-3833del	ENSP00000493088.1:n.460-3833del
ENST00000646677.2:c.460-3833del	ENSP00000496533.1:n.460-3833del
ENST00000641284.1:c.460-3833del	ENSP00000493088.1:n.460-3833del
ENST00000646677.1:c.460-3833del	ENSP00000496533.1:n.460-3833del
ENST00000647318.2:c.460-3833del MANE Select	ENSP00000495993.1:n.460-3833del
ENST00000300589.6:c.541-3833del	ENSP00000300589.2:n.541-3833del
ENST00000526417.6:n.528-3833del
ENST00000527070.5:c.*1156-3833del	ENSP00000435149.1:n.*1156-3833del
ENST00000532206.1:n.644+4068del
NM_001293557.1:c.460-3833del	NP_001280486.1:n.460-3833del
NM_022162.2:c.541-3833del	NP_071445.1:n.541-3833del
XM_005256084.2:c.460-3833del	XP_005256141.1:n.460-3833del
XM_006721242.2:c.460-3833del	XP_006721305.1:n.460-3833del
XM_006721243.2:c.460-3833del	XP_006721306.1:n.460-3833del
XM_011523257.1:c.-37-3833del	XP_011521559.1:n.-37-3833del
XM_011523258.1:c.-37-3833del	XP_011521560.1:n.-37-3833del
XM_011523259.1:c.-21+4068del	XP_011521561.1:n.-21+4068del
XM_011523260.1:c.460-3833del	XP_011521562.1:n.460-3833del
XM_011523261.1:c.460-3833del	XP_011521563.1:n.460-3833del
XR_429725.2:n.550-3833del
XR_429726.2:n.550-3833del
XR_933387.1:n.550-3833del
XM_005256084.4:c.460-3833del	XP_005256141.1:n.460-3833del
XM_006721242.4:c.460-3833del	XP_006721305.1:n.460-3833del
XM_006721243.4:c.460-3833del	XP_006721306.1:n.460-3833del
XM_011523259.2:c.-21+4068del	XP_011521561.1:n.-21+4068del
XM_011523260.3:c.460-3833del	XP_011521562.1:n.460-3833del
XM_011523261.2:c.460-3833del	XP_011521563.1:n.460-3833del
XM_017023536.1:c.-126-3833del	XP_016879025.1:n.-126-3833del
XM_017023537.1:c.-20-6536del	XP_016879026.1:n.-20-6536del
XM_017023538.1:c.-126-3833del	XP_016879027.1:n.-126-3833del
XR_429725.3:n.503-3833del
XR_429726.3:n.503-3833del
XR_933387.2:n.503-3833del
NM_001293557.2:c.460-3833del	NP_001280486.1:n.460-3833del
NM_001370466.1:c.460-3833del MANE Select	NP_001357395.1:n.460-3833del
NM_022162.3:c.541-3833del	NP_071445.1:n.541-3833del
NR_163434.1:n.525-3833del