Canonical Allele Identifier: CA944520642

Gene: MFAP5

Linked Data

• dbSNP Id: rs1942158649
• gnomAD v3: 12-8661755-AT-A
• gnomAD v4: 12-8661755-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8661758del , CM000674.2:g.8661758del	GRCh38
NC_000012.11:g.8814354del , CM000674.1:g.8814354del	GRCh37
NC_000012.10:g.8705621del	NCBI36
NG_041814.1:g.6133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.58+291del MANE Select	ENSP00000352455.2:n.58+291del
ENST00000359478.6:c.58+291del	ENSP00000352455.2:n.58+291del
ENST00000396549.6:c.58+291del	ENSP00000379798.2:n.58+291del
ENST00000433590.6:c.58+291del	ENSP00000411997.2:n.58+291del
ENST00000534833.5:n.109+291del
ENST00000535336.5:c.58+291del	ENSP00000438525.1:n.58+291del
ENST00000535411.5:c.27+291del
ENST00000537009.5:c.58+291del	ENSP00000439289.1:n.58+291del
ENST00000537128.1:n.322+291del
ENST00000538107.5:n.322+291del
ENST00000540087.5:c.58+291del	ENSP00000440496.1:n.58+291del
ENST00000543369.5:c.58+291del	ENSP00000441492.1:n.58+291del
ENST00000544211.5:c.58+291del	ENSP00000443839.1:n.58+291del
ENST00000544889.1:c.58+291del	ENSP00000445799.1:n.58+291del
NM_001297709.1:c.58+291del	NP_001284638.1:n.58+291del
NM_001297710.1:c.58+291del	NP_001284639.1:n.58+291del
NM_001297711.1:c.58+291del	NP_001284640.1:n.58+291del
NM_001297712.1:c.58+291del	NP_001284641.1:n.58+291del
NM_003480.3:c.58+291del	NP_003471.1:n.58+291del
NR_123733.1:n.322+291del
NR_123734.1:n.322+291del
NM_003480.4:c.58+291del MANE Select	NP_003471.1:n.58+291del
NM_001297709.2:c.58+291del	NP_001284638.1:n.58+291del
NM_001297710.2:c.58+291del	NP_001284639.1:n.58+291del
NM_001297711.2:c.58+291del	NP_001284640.1:n.58+291del
NM_001297712.2:c.58+291del	NP_001284641.1:n.58+291del
NR_123733.2:n.260+291del
NR_123734.2:n.260+291del