Canonical Allele Identifier: CA2580066398

Gene: NLRC4

Linked Data

• ClinVar Variation Id: 2091429
• ClinVar RCV Id: RCV003013607

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32251321_32251322delinsGG , CM000664.2:g.32251321_32251322delinsGG	GRCh38
NC_000002.11:g.32476390_32476391delinsGG , CM000664.1:g.32476390_32476391delinsGG	GRCh37
NC_000002.10:g.32329894_32329895delinsGG	NCBI36
NG_041780.1:g.19422_19423delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652197.2:c.-76+5453_-76+5454delinsCC	ENSP00000498301.2:n.-76+5453_-76+5454delinsCC
ENST00000402280.6:c.542_543delinsCC MANE Select	ENSP00000385428.1:p.Arg181Pro
ENST00000404025.3:c.542_543delinsCC	ENSP00000385090.3:p.Arg181Pro
ENST00000652197.1:c.542_543delinsCC	ENSP00000498301.1:p.Arg181Pro
ENST00000342905.10:c.262+1097_262+1098delinsCC	ENSP00000339666.6:n.262+1097_262+1098delinsCC
ENST00000360906.9:c.542_543delinsCC	ENSP00000354159.5:p.Arg181Pro
ENST00000402280.5:c.542_543delinsCC	ENSP00000385428.1:p.Arg181Pro
ENST00000404025.2:c.542_543delinsCC	ENSP00000385090.2:p.Arg181Pro
NM_001199138.1:c.542_543delinsCC	NP_001186067.1:p.Arg181Pro
NM_001199139.1:c.542_543delinsCC	NP_001186068.1:p.Arg181Pro
NM_001302504.1:c.262+1097_262+1098delinsCC	NP_001289433.1:n.262+1097_262+1098delinsCC
NM_021209.4:c.542_543delinsCC	NP_067032.3:p.Arg181Pro
XM_011533008.1:c.542_543delinsCC	XP_011531310.1:p.Arg181Pro
XM_017004619.1:c.542_543delinsCC	XP_016860108.1:p.Arg181Pro
XR_001738872.1:n.803_804delinsCC
NM_001199138.2:c.542_543delinsCC MANE Select	NP_001186067.1:p.Arg181Pro