Canonical Allele Identifier: CA218961

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119346390_119346392dup , CM000673.2:g.119346390_119346392dup	GRCh38
NC_000011.9:g.119217100_119217102dup , CM000673.1:g.119217100_119217102dup	GRCh37
NC_000011.8:g.118722310_118722312dup	NCBI36
NG_012235.1:g.5283_5285dup

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.55-17_55-15dup (MFRP) MANE Select	NP_113621.1:n.55-17_55-15dup
ENST00000619721.6:c.55-17_55-15dup (MFRP) MANE Select	ENSP00000481824.1:n.55-17_55-15dup
NM_015645.4:c.-2582-17_-2582-15dup (C1QTNF5)	NP_056460.1:n.-2582-17_-2582-15dup
NM_015645.5:c.-2582-17_-2582-15dup (C1QTNF5)	NP_056460.1:n.-2582-17_-2582-15dup
NM_031433.3:c.55-17_55-15dup (MFRP)	NP_113621.1:n.55-17_55-15dup
ENST00000360167.4:c.55-17_55-15dup (MFRP)	ENSP00000353291.4:n.55-17_55-15dup
ENST00000526059.1:n.158+69_158+71dup (MFRP)
ENST00000619721.5:c.55-17_55-15dup (MFRP)	ENSP00000481824.1:n.55-17_55-15dup
ENST00000634542.1:c.54+69_54+71dup (MFRP)	ENSP00000488979.1:n.54+69_54+71dup