Canonical Allele Identifier: CA2616404347

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341579-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341581del , CM000673.2:g.119341581del	GRCh38
NC_000011.9:g.119212291del , CM000673.1:g.119212291del	GRCh37
NC_000011.8:g.118717501del	NCBI36
NG_012235.1:g.10094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1708del (MFRP) MANE Select	ENSP00000481824.1:p.Ala570GlnfsTer?
ENST00000360167.4:c.1354del (MFRP)	ENSP00000353291.4:p.Ala452GlnfsTer?
ENST00000619721.5:c.1708del (MFRP)	ENSP00000481824.1:p.Ala570GlnfsTer?
NM_015645.4:c.-929del (C1QTNF5)	NP_056460.1:n.-929del
NM_031433.3:c.1708del (MFRP)	NP_113621.1:p.Ala570GlnfsTer?
NM_031433.4:c.1708del (MFRP) MANE Select	NP_113621.1:p.Ala570GlnfsTer?
NM_015645.5:c.-929del (C1QTNF5)	NP_056460.1:n.-929del