Canonical Allele Identifier: CA2617498707

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648062-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648068del , CM000674.2:g.8648068del	GRCh38
NC_000012.11:g.8800664del , CM000674.1:g.8800664del	GRCh37
NC_000012.10:g.8691931del	NCBI36
NG_041814.1:g.19826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*28del MANE Select	ENSP00000352455.2:n.*28del
ENST00000359478.6:c.*28del	ENSP00000352455.2:n.*28del
ENST00000396549.6:c.*28del	ENSP00000379798.2:n.*28del
ENST00000433590.6:c.*28del	ENSP00000411997.2:n.*28del
ENST00000535336.5:c.*28del	ENSP00000438525.1:n.*28del
ENST00000535411.5:c.519del
ENST00000543369.5:c.*28del	ENSP00000441492.1:n.*28del
ENST00000543467.5:c.268del	ENSP00000444531.1:n.268del
ENST00000544211.5:c.*202del	ENSP00000443839.1:n.*202del
NM_001297709.1:c.*28del	NP_001284638.1:n.*28del
NM_001297710.1:c.*28del	NP_001284639.1:n.*28del
NM_001297711.1:c.*28del	NP_001284640.1:n.*28del
NM_001297712.1:c.*28del	NP_001284641.1:n.*28del
NM_003480.3:c.*28del	NP_003471.1:n.*28del
NR_123733.1:n.883del
NR_123734.1:n.853del
NM_003480.4:c.*28del MANE Select	NP_003471.1:n.*28del
NM_001297709.2:c.*28del	NP_001284638.1:n.*28del
NM_001297710.2:c.*28del	NP_001284639.1:n.*28del
NM_001297711.2:c.*28del	NP_001284640.1:n.*28del
NM_001297712.2:c.*28del	NP_001284641.1:n.*28del
NR_123733.2:n.821del
NR_123734.2:n.791del