Canonical Allele Identifier: CA2580066399

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 2099443
• ClinVar RCV Id: RCV003022997

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251323del , CM000664.2:g.32251323del	GRCh38
NC_000002.11:g.32476392del , CM000664.1:g.32476392del	GRCh37
NC_000002.10:g.32329896del	NCBI36
NG_041780.1:g.19421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5452del	ENSP00000498301.2:n.-76+5452del
ENST00000402280.6:c.541del MANE Select	ENSP00000385428.1:p.Arg181GlufsTer14
ENST00000404025.3:c.541del	ENSP00000385090.3:p.Arg181GlufsTer14
ENST00000652197.1:c.541del	ENSP00000498301.1:p.Arg181GlufsTer14
ENST00000342905.10:c.262+1096del	ENSP00000339666.6:n.262+1096del
ENST00000360906.9:c.541del	ENSP00000354159.5:p.Arg181GlufsTer14
ENST00000402280.5:c.541del	ENSP00000385428.1:p.Arg181GlufsTer14
ENST00000404025.2:c.541del	ENSP00000385090.2:p.Arg181GlufsTer14
NM_001199138.1:c.541del	NP_001186067.1:p.Arg181GlufsTer14
NM_001199139.1:c.541del	NP_001186068.1:p.Arg181GlufsTer14
NM_001302504.1:c.262+1096del	NP_001289433.1:n.262+1096del
NM_021209.4:c.541del	NP_067032.3:p.Arg181GlufsTer14
XM_011533008.1:c.541del	XP_011531310.1:p.Arg181GlufsTer14
XM_017004619.1:c.541del	XP_016860108.1:p.Arg181GlufsTer14
XR_001738872.1:n.802del
NM_001199138.2:c.541del MANE Select	NP_001186067.1:p.Arg181GlufsTer14