Canonical Allele Identifier: CA2616404413

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341626-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341627dup , CM000673.2:g.119341627dup	GRCh38
NC_000011.9:g.119212337dup , CM000673.1:g.119212337dup	GRCh37
NC_000011.8:g.118717547dup	NCBI36
NG_012235.1:g.10047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1661dup (MFRP) MANE Select	ENSP00000481824.1:p.Leu555ThrfsTer18
ENST00000360167.4:c.1307dup (MFRP)	ENSP00000353291.4:p.Leu437ThrfsTer18
ENST00000449574.7:c.532dup (MFRP)
ENST00000619721.5:c.1661dup (MFRP)	ENSP00000481824.1:p.Leu555ThrfsTer18
NM_015645.4:c.-976dup (C1QTNF5)	NP_056460.1:n.-976dup
NM_031433.3:c.1661dup (MFRP)	NP_113621.1:p.Leu555ThrfsTer18
NM_031433.4:c.1661dup (MFRP) MANE Select	NP_113621.1:p.Leu555ThrfsTer18
NM_015645.5:c.-976dup (C1QTNF5)	NP_056460.1:n.-976dup