Canonical Allele Identifier: CA6319933

Gene: C1QTNF5 MFRP

Linked Data

• dbSNP Id: rs747980638
• ExAC: 11:119210274 CAAACTGCAGGCTG / C
• gnomAD v2: 11-119210274-CAAACTGCAGGCTG-C
• gnomAD v4: 11-119339564-CAAACTGCAGGCTG-C
• MyVariant Identifiers: chr11:g.119210275_119210287del (hg19) ; chr11:g.119339565_119339577del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339565_119339577del , CM000673.2:g.119339565_119339577del	GRCh38
NC_000011.9:g.119210275_119210287del , CM000673.1:g.119210275_119210287del	GRCh37
NC_000011.8:g.118715485_118715497del	NCBI36
NG_012235.1:g.12097_12109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000528368.3:c.486_498del (C1QTNF5) MANE Select	ENSP00000431140.1:p.Ser163IlefsTer3
ENST00000619721.6:c.*1382_*1394del (MFRP) MANE Select	ENSP00000481824.1:n.*1382_*1394del
ENST00000525657.2:n.376_388del (C1QTNF5)
ENST00000528368.2:c.486_498del (C1QTNF5)	ENSP00000431140.1:p.Ser163IlefsTer3
ENST00000530681.2:c.486_498del (C1QTNF5)	ENSP00000456533.2:p.Ser163IlefsTer3
ENST00000619721.5:c.*1382_*1394del (MFRP)	ENSP00000481824.1:n.*1382_*1394del
NM_001278431.1:c.486_498del (C1QTNF5)	NP_001265360.1:p.Ser163IlefsTer3
NM_015645.4:c.486_498del (C1QTNF5)	NP_056460.1:p.Ser163IlefsTer3
NM_031433.3:c.*1382_*1394del (MFRP)	NP_113621.1:n.*1382_*1394del
NM_001278431.2:c.486_498del (C1QTNF5) MANE Select	NP_001265360.1:p.Ser163IlefsTer3
NM_031433.4:c.*1382_*1394del (MFRP) MANE Select	NP_113621.1:n.*1382_*1394del
NM_015645.5:c.486_498del (C1QTNF5)	NP_056460.1:p.Ser163IlefsTer3