Canonical Allele Identifier: CA2616404445

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341636-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341637_119341638del , CM000673.2:g.119341637_119341638del	GRCh38
NC_000011.9:g.119212347_119212348del , CM000673.1:g.119212347_119212348del	GRCh37
NC_000011.8:g.118717557_118717558del	NCBI36
NG_012235.1:g.10036_10037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1650_1651del (MFRP) MANE Select	ENSP00000481824.1:p.Gln550HisfsTer22
ENST00000360167.4:c.1296_1297del (MFRP)	ENSP00000353291.4:p.Gln432HisfsTer22
ENST00000449574.7:c.521_522del (MFRP)
ENST00000619721.5:c.1650_1651del (MFRP)	ENSP00000481824.1:p.Gln550HisfsTer22
NM_015645.4:c.-987_-986del (C1QTNF5)	NP_056460.1:n.-987_-986del
NM_031433.3:c.1650_1651del (MFRP)	NP_113621.1:p.Gln550HisfsTer22
NM_031433.4:c.1650_1651del (MFRP) MANE Select	NP_113621.1:p.Gln550HisfsTer22
NM_015645.5:c.-987_-986del (C1QTNF5)	NP_056460.1:n.-987_-986del