Canonical Allele Identifier: CA2616397355

Gene: C1QTNF5 MFRP

Linked Data

• gnomAD v4: 11-119339394-TGTCTTGATGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339396_119339407del , CM000673.2:g.119339396_119339407del	GRCh38
NC_000011.9:g.119210106_119210117del , CM000673.1:g.119210106_119210117del	GRCh37
NC_000011.8:g.118715316_118715327del	NCBI36
NG_012235.1:g.12268_12279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.657_668del (C1QTNF5) MANE Select	ENSP00000431140.1:p.Ser220_Thr223del
ENST00000619721.6:c.*1553_*1564del (MFRP) MANE Select	ENSP00000481824.1:n.*1553_*1564del
ENST00000525657.2:n.547_558del (C1QTNF5)
ENST00000528368.2:c.657_668del (C1QTNF5)	ENSP00000431140.1:p.Ser220_Thr223del
ENST00000530681.2:c.657_668del (C1QTNF5)	ENSP00000456533.2:p.Ser220_Thr223del
ENST00000619721.5:c.*1553_*1564del (MFRP)	ENSP00000481824.1:n.*1553_*1564del
NM_001278431.1:c.657_668del (C1QTNF5)	NP_001265360.1:p.Ser220_Thr223del
NM_015645.4:c.657_668del (C1QTNF5)	NP_056460.1:p.Ser220_Thr223del
NM_031433.3:c.*1553_*1564del (MFRP)	NP_113621.1:n.*1553_*1564del
NM_001278431.2:c.657_668del (C1QTNF5) MANE Select	NP_001265360.1:p.Ser220_Thr223del
NM_031433.4:c.*1553_*1564del (MFRP) MANE Select	NP_113621.1:n.*1553_*1564del
NM_015645.5:c.657_668del (C1QTNF5)	NP_056460.1:p.Ser220_Thr223del