Canonical Allele Identifier: CA977236212

Gene: NOD2

Linked Data

• gnomAD v3: 16-50699925-AGGTTG-A
• gnomAD v4: 16-50699925-AGGTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50699926_50699930del , CM000678.2:g.50699926_50699930del	GRCh38
NC_000016.9:g.50733837_50733841del , CM000678.1:g.50733837_50733841del	GRCh37
NC_000016.8:g.49291338_49291342del	NCBI36
NG_007508.1:g.7788_7792del , LRG_177:g.7788_7792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.431_435del	ENSP00000493088.1:p.Arg144ThrfsTer14
ENST00000646677.2:c.431_435del	ENSP00000496533.1:p.Arg144ThrfsTer14
ENST00000641284.1:c.431_435del	ENSP00000493088.1:p.Arg144ThrfsTer14
ENST00000646677.1:c.431_435del	ENSP00000496533.1:p.Arg144ThrfsTer14
ENST00000647318.2:c.431_435del MANE Select	ENSP00000495993.1:p.Arg144ThrfsTer14
ENST00000300589.6:c.512_516del	ENSP00000300589.2:p.Arg171ThrfsTer14
ENST00000526417.6:n.499_503del
ENST00000527070.5:c.*1127_*1131del	ENSP00000435149.1:n.*1127_*1131del
ENST00000531674.1:c.431_435del	ENSP00000431681.1:p.Arg144ThrfsTer?
ENST00000532206.1:n.616_620del
NM_001293557.1:c.431_435del	NP_001280486.1:p.Arg144ThrfsTer14
NM_022162.2:c.512_516del	NP_071445.1:p.Arg171ThrfsTer14
XM_005256084.2:c.431_435del	XP_005256141.1:p.Arg144ThrfsTer14
XM_006721242.2:c.431_435del	XP_006721305.1:p.Arg144ThrfsTer14
XM_006721243.2:c.431_435del	XP_006721306.1:p.Arg144ThrfsTer14
XM_011523257.1:c.-66_-62del	XP_011521559.1:n.-66_-62del
XM_011523258.1:c.-38+6264_-38+6268del	XP_011521560.1:n.-38+6264_-38+6268del
XM_011523259.1:c.-49_-45del	XP_011521561.1:n.-49_-45del
XM_011523260.1:c.431_435del	XP_011521562.1:p.Arg144ThrfsTer14
XM_011523261.1:c.431_435del	XP_011521563.1:p.Arg144ThrfsTer14
XR_429725.2:n.521_525del
XR_429726.2:n.521_525del
XR_933387.1:n.521_525del
XM_005256084.4:c.431_435del	XP_005256141.1:p.Arg144ThrfsTer14
XM_006721242.4:c.431_435del	XP_006721305.1:p.Arg144ThrfsTer14
XM_006721243.4:c.431_435del	XP_006721306.1:p.Arg144ThrfsTer14
XM_011523259.2:c.-49_-45del	XP_011521561.1:n.-49_-45del
XM_011523260.3:c.431_435del	XP_011521562.1:p.Arg144ThrfsTer14
XM_011523261.2:c.431_435del	XP_011521563.1:p.Arg144ThrfsTer14
XM_017023536.1:c.-127+6264_-127+6268del	XP_016879025.1:n.-127+6264_-127+6268del
XM_017023537.1:c.-21+6264_-21+6268del	XP_016879026.1:n.-21+6264_-21+6268del
XR_429725.3:n.474_478del
XR_429726.3:n.474_478del
XR_933387.2:n.474_478del
NM_001293557.2:c.431_435del	NP_001280486.1:p.Arg144ThrfsTer14
NM_001370466.1:c.431_435del MANE Select	NP_001357395.1:p.Arg144ThrfsTer14
NM_022162.3:c.512_516del	NP_071445.1:p.Arg171ThrfsTer14
NR_163434.1:n.496_500del