Canonical Allele Identifier: CA602579120

Gene: C1QTNF5 MFRP

Linked Data

• dbSNP Id: rs1321784834
• gnomAD v2: 11-119210285-C-CGGTGGGCGGAGCCTTGAGGGGCTTTG
• MyVariant Identifiers: chr11:g.119210285_119210286insGGTGGGCGGAGCCTTGAGGGGCTTTG (hg19) ; chr11:g.119339575_119339576insGGTGGGCGGAGCCTTGAGGGGCTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339575_119339576insGGTGGGCGGAGCCTTGAGGGGCTTTG , CM000673.2:g.119339575_119339576insGGTGGGCGGAGCCTTGAGGGGCTTTG	GRCh38
NC_000011.9:g.119210285_119210286insGGTGGGCGGAGCCTTGAGGGGCTTTG , CM000673.1:g.119210285_119210286insGGTGGGCGGAGCCTTGAGGGGCTTTG	GRCh37
NC_000011.8:g.118715495_118715496insGGTGGGCGGAGCCTTGAGGGGCTTTG	NCBI36
NG_012235.1:g.12098_12099insCAAAGCCCCTCAAGGCTCCGCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5) MANE Select	ENSP00000431140.1:p.Ser163ThrfsTer16
ENST00000619721.6:c.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC (MFRP) MANE Select	ENSP00000481824.1:n.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC
ENST00000525657.2:n.377_378insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5)
ENST00000528368.2:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5)	ENSP00000431140.1:p.Ser163ThrfsTer16
ENST00000530681.2:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5)	ENSP00000456533.2:p.Ser163ThrfsTer16
ENST00000619721.5:c.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC (MFRP)	ENSP00000481824.1:n.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC
NM_001278431.1:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5)	NP_001265360.1:p.Ser163ThrfsTer16
NM_015645.4:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5)	NP_056460.1:p.Ser163ThrfsTer16
NM_031433.3:c.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC (MFRP)	NP_113621.1:n.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC
NM_001278431.2:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5) MANE Select	NP_001265360.1:p.Ser163ThrfsTer16
NM_031433.4:c.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC (MFRP) MANE Select	NP_113621.1:n.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC
NM_015645.5:c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (C1QTNF5)	NP_056460.1:p.Ser163ThrfsTer16