Canonical Allele Identifier: CA2003913587

Gene: C1QTNF5 MFRP

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339564_119339577delinsCAAACTGCAGGCTG , CM000673.2:g.119339564_119339577delinsCAAACTGCAGGCTG	GRCh38
NC_000011.9:g.119210274_119210287delinsCAAACTGCAGGCTG , CM000673.1:g.119210274_119210287delinsCAAACTGCAGGCTG	GRCh37
NC_000011.8:g.118715484_118715497delinsCAAACTGCAGGCTG	NCBI36
NG_012235.1:g.12097_12110delinsCAGCCTGCAGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5) MANE Select	ENSP00000431140.1:p.Ala162=
ENST00000619721.6:c.*1382_*1395delinsCAGCCTGCAGTTTG (MFRP) MANE Select	ENSP00000481824.1:n.*1382_*1395delinsCAGCCTGCAGTTTG
ENST00000525657.2:n.376_389delinsCAGCCTGCAGTTTG (C1QTNF5)
ENST00000528368.2:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5)	ENSP00000431140.1:p.Ala162=
ENST00000530681.2:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5)	ENSP00000456533.2:p.Ala162=
ENST00000619721.5:c.*1382_*1395delinsCAGCCTGCAGTTTG (MFRP)	ENSP00000481824.1:n.*1382_*1395delinsCAGCCTGCAGTTTG
NM_001278431.1:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5)	NP_001265360.1:p.Ala162=
NM_015645.4:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5)	NP_056460.1:p.Ala162=
NM_031433.3:c.*1382_*1395delinsCAGCCTGCAGTTTG (MFRP)	NP_113621.1:n.*1382_*1395delinsCAGCCTGCAGTTTG
NM_001278431.2:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5) MANE Select	NP_001265360.1:p.Ala162=
NM_031433.4:c.*1382_*1395delinsCAGCCTGCAGTTTG (MFRP) MANE Select	NP_113621.1:n.*1382_*1395delinsCAGCCTGCAGTTTG
NM_015645.5:c.486_499delinsCAGCCTGCAGTTTG (C1QTNF5)	NP_056460.1:p.Ala162=