Canonical Allele Identifier: CA2617498711

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648075-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648076_8648077del , CM000674.2:g.8648076_8648077del	GRCh38
NC_000012.11:g.8800672_8800673del , CM000674.1:g.8800672_8800673del	GRCh37
NC_000012.10:g.8691939_8691940del	NCBI36
NG_041814.1:g.19812_19813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*14_*15del MANE Select	ENSP00000352455.2:n.*14_*15del
ENST00000359478.6:c.*14_*15del	ENSP00000352455.2:n.*14_*15del
ENST00000396549.6:c.*14_*15del	ENSP00000379798.2:n.*14_*15del
ENST00000433590.6:c.*14_*15del	ENSP00000411997.2:n.*14_*15del
ENST00000535336.5:c.*14_*15del	ENSP00000438525.1:n.*14_*15del
ENST00000535411.5:c.505_506del
ENST00000543369.5:c.*14_*15del	ENSP00000441492.1:n.*14_*15del
ENST00000543467.5:c.254_255del	ENSP00000444531.1:n.254_255del
ENST00000544211.5:c.*188_*189del	ENSP00000443839.1:n.*188_*189del
NM_001297709.1:c.*14_*15del	NP_001284638.1:n.*14_*15del
NM_001297710.1:c.*14_*15del	NP_001284639.1:n.*14_*15del
NM_001297711.1:c.*14_*15del	NP_001284640.1:n.*14_*15del
NM_001297712.1:c.*14_*15del	NP_001284641.1:n.*14_*15del
NM_003480.3:c.*14_*15del	NP_003471.1:n.*14_*15del
NR_123733.1:n.869_870del
NR_123734.1:n.839_840del
NM_003480.4:c.*14_*15del MANE Select	NP_003471.1:n.*14_*15del
NM_001297709.2:c.*14_*15del	NP_001284638.1:n.*14_*15del
NM_001297710.2:c.*14_*15del	NP_001284639.1:n.*14_*15del
NM_001297711.2:c.*14_*15del	NP_001284640.1:n.*14_*15del
NM_001297712.2:c.*14_*15del	NP_001284641.1:n.*14_*15del
NR_123733.2:n.807_808del
NR_123734.2:n.777_778del