Canonical Allele Identifier: CA2616397523

Gene: C1QTNF5 MFRP

Linked Data

• gnomAD v4: 11-119339526-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339531_119339534del , CM000673.2:g.119339531_119339534del	GRCh38
NC_000011.9:g.119210241_119210244del , CM000673.1:g.119210241_119210244del	GRCh37
NC_000011.8:g.118715451_118715454del	NCBI36
NG_012235.1:g.12144_12147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.533_536del (C1QTNF5) MANE Select	ENSP00000431140.1:p.Phe178SerfsTer19
ENST00000619721.6:c.*1429_*1432del (MFRP) MANE Select	ENSP00000481824.1:n.*1429_*1432del
ENST00000525657.2:n.423_426del (C1QTNF5)
ENST00000528368.2:c.533_536del (C1QTNF5)	ENSP00000431140.1:p.Phe178SerfsTer19
ENST00000530681.2:c.533_536del (C1QTNF5)	ENSP00000456533.2:p.Phe178SerfsTer19
ENST00000619721.5:c.*1429_*1432del (MFRP)	ENSP00000481824.1:n.*1429_*1432del
NM_001278431.1:c.533_536del (C1QTNF5)	NP_001265360.1:p.Phe178SerfsTer19
NM_015645.4:c.533_536del (C1QTNF5)	NP_056460.1:p.Phe178SerfsTer19
NM_031433.3:c.*1429_*1432del (MFRP)	NP_113621.1:n.*1429_*1432del
NM_001278431.2:c.533_536del (C1QTNF5) MANE Select	NP_001265360.1:p.Phe178SerfsTer19
NM_031433.4:c.*1429_*1432del (MFRP) MANE Select	NP_113621.1:n.*1429_*1432del
NM_015645.5:c.533_536del (C1QTNF5)	NP_056460.1:p.Phe178SerfsTer19