Canonical Allele Identifier: CA6434733

Gene: MFAP5

Linked Data

• ClinVar Variation Id: 516757
• ClinVar RCV Id: RCV001704806 ; RCV003230555
• dbSNP Id: rs71042401
• ExAC: 12:8808362 CAAACA / C
• gnomAD v2: 12-8808362-CAAACA-C
• gnomAD v3: 12-8655766-CAAACA-C
• gnomAD v4: 12-8655766-CAAACA-C
• MyVariant Identifiers: chr12:g.8808363_8808367del (hg19) ; chr12:g.8655767_8655771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8655770_8655774del , CM000674.2:g.8655770_8655774del	GRCh38
NC_000012.11:g.8808366_8808370del , CM000674.1:g.8808366_8808370del	GRCh37
NC_000012.10:g.8699633_8699637del	NCBI36
NG_041814.1:g.12118_12122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.139+15_139+19del MANE Select	ENSP00000352455.2:n.139+15_139+19del
ENST00000359478.6:c.139+15_139+19del	ENSP00000352455.2:n.139+15_139+19del
ENST00000396549.6:c.139+15_139+19del	ENSP00000379798.2:n.139+15_139+19del
ENST00000433590.6:c.139+15_139+19del	ENSP00000411997.2:n.139+15_139+19del
ENST00000534833.5:n.190+15_190+19del
ENST00000535336.5:c.139+15_139+19del	ENSP00000438525.1:n.139+15_139+19del
ENST00000535411.5:c.108+15_108+19del
ENST00000537009.5:c.139+15_139+19del	ENSP00000439289.1:n.139+15_139+19del
ENST00000537128.1:n.403+15_403+19del
ENST00000538107.5:n.403+15_403+19del
ENST00000538694.5:n.98+15_98+19del
ENST00000540087.5:c.139+15_139+19del	ENSP00000440496.1:n.139+15_139+19del
ENST00000543369.5:c.103+15_103+19del	ENSP00000441492.1:n.103+15_103+19del
ENST00000544211.5:c.139+15_139+19del	ENSP00000443839.1:n.139+15_139+19del
ENST00000544889.1:c.139+15_139+19del	ENSP00000445799.1:n.139+15_139+19del
NM_001297709.1:c.139+15_139+19del	NP_001284638.1:n.139+15_139+19del
NM_001297710.1:c.103+15_103+19del	NP_001284639.1:n.103+15_103+19del
NM_001297711.1:c.139+15_139+19del	NP_001284640.1:n.139+15_139+19del
NM_001297712.1:c.139+15_139+19del	NP_001284641.1:n.139+15_139+19del
NM_003480.3:c.139+15_139+19del	NP_003471.1:n.139+15_139+19del
NR_123733.1:n.403+15_403+19del
NR_123734.1:n.403+15_403+19del
NM_003480.4:c.139+15_139+19del MANE Select	NP_003471.1:n.139+15_139+19del
NM_001297709.2:c.139+15_139+19del	NP_001284638.1:n.139+15_139+19del
NM_001297710.2:c.103+15_103+19del	NP_001284639.1:n.103+15_103+19del
NM_001297711.2:c.139+15_139+19del	NP_001284640.1:n.139+15_139+19del
NM_001297712.2:c.139+15_139+19del	NP_001284641.1:n.139+15_139+19del
NR_123733.2:n.341+15_341+19del
NR_123734.2:n.341+15_341+19del