Canonical Allele Identifier: CA2575062205

Gene: C1QTNF5 MFRP

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339443_119339444dup , CM000673.2:g.119339443_119339444dup	GRCh38
NC_000011.9:g.119210153_119210154dup , CM000673.1:g.119210153_119210154dup	GRCh37
NC_000011.8:g.118715363_118715364dup	NCBI36
NG_012235.1:g.12231_12232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.620_621dup (C1QTNF5) MANE Select	ENSP00000431140.1:p.Gln208CysfsTer?
ENST00000619721.6:c.*1516_*1517dup (MFRP) MANE Select	ENSP00000481824.1:n.*1516_*1517dup
ENST00000525657.2:n.510_511dup (C1QTNF5)
ENST00000528368.2:c.620_621dup (C1QTNF5)	ENSP00000431140.1:p.Gln208CysfsTer?
ENST00000530681.2:c.620_621dup (C1QTNF5)	ENSP00000456533.2:p.Gln208CysfsTer?
ENST00000619721.5:c.*1516_*1517dup (MFRP)	ENSP00000481824.1:n.*1516_*1517dup
NM_001278431.1:c.620_621dup (C1QTNF5)	NP_001265360.1:p.Gln208CysfsTer?
NM_015645.4:c.620_621dup (C1QTNF5)	NP_056460.1:p.Gln208CysfsTer?
NM_031433.3:c.*1516_*1517dup (MFRP)	NP_113621.1:n.*1516_*1517dup
NM_001278431.2:c.620_621dup (C1QTNF5) MANE Select	NP_001265360.1:p.Gln208CysfsTer?
NM_031433.4:c.*1516_*1517dup (MFRP) MANE Select	NP_113621.1:n.*1516_*1517dup
NM_015645.5:c.620_621dup (C1QTNF5)	NP_056460.1:p.Gln208CysfsTer?