Canonical Allele Identifier: CA2617498697

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8648036-G-GAGATCCTCCTTCCTCTCACCCATACATTTTTTCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8648037_8648072dup , CM000674.2:g.8648037_8648072dup	GRCh38
NC_000012.11:g.8800633_8800668dup , CM000674.1:g.8800633_8800668dup	GRCh37
NC_000012.10:g.8691900_8691935dup	NCBI36
NG_041814.1:g.19817_19852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.*19_*54dup MANE Select	ENSP00000352455.2:n.*19_*54dup
ENST00000359478.6:c.*19_*54dup	ENSP00000352455.2:n.*19_*54dup
ENST00000396549.6:c.*19_*54dup	ENSP00000379798.2:n.*19_*54dup
ENST00000433590.6:c.*19_*54dup	ENSP00000411997.2:n.*19_*54dup
ENST00000535336.5:c.*19_*54dup	ENSP00000438525.1:n.*19_*54dup
ENST00000535411.5:c.510_520+25dup
ENST00000543369.5:c.*19_*54dup	ENSP00000441492.1:n.*19_*54dup
ENST00000543467.5:c.259_269+25dup
ENST00000544211.5:c.*193_*228dup	ENSP00000443839.1:n.*193_*228dup
NM_001297709.1:c.*19_*54dup	NP_001284638.1:n.*19_*54dup
NM_001297710.1:c.*19_*54dup	NP_001284639.1:n.*19_*54dup
NM_001297711.1:c.*19_*54dup	NP_001284640.1:n.*19_*54dup
NM_001297712.1:c.*19_*54dup	NP_001284641.1:n.*19_*54dup
NM_003480.3:c.*19_*54dup	NP_003471.1:n.*19_*54dup
NR_123733.1:n.874_909dup
NR_123734.1:n.844_879dup
NM_003480.4:c.*19_*54dup MANE Select	NP_003471.1:n.*19_*54dup
NM_001297709.2:c.*19_*54dup	NP_001284638.1:n.*19_*54dup
NM_001297710.2:c.*19_*54dup	NP_001284639.1:n.*19_*54dup
NM_001297711.2:c.*19_*54dup	NP_001284640.1:n.*19_*54dup
NM_001297712.2:c.*19_*54dup	NP_001284641.1:n.*19_*54dup
NR_123733.2:n.812_847dup
NR_123734.2:n.782_817dup