Canonical Allele Identifier: CA2617501171

Gene: MFAP5

Linked Data

• gnomAD v4: 12-8662386-C-CCAAAGGGTAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8662387_8662388insAAAGGGTAGGGC , CM000674.2:g.8662387_8662388insAAAGGGTAGGGC	GRCh38
NC_000012.11:g.8814983_8814984insAAAGGGTAGGGC , CM000674.1:g.8814983_8814984insAAAGGGTAGGGC	GRCh37
NC_000012.10:g.8706250_8706251insAAAGGGTAGGGC	NCBI36
NG_041814.1:g.5502_5503insCCCTACCCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.-3+240_-3+241insCCCTACCCTTTG MANE Select	ENSP00000352455.2:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000359478.6:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000352455.2:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000396549.6:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000379798.2:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000433590.6:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000411997.2:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000534833.5:n.49+240_49+241insCCCTACCCTTTG
ENST00000535336.5:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000438525.1:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000537009.5:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000439289.1:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000537128.1:n.262+240_262+241insCCCTACCCTTTG
ENST00000538107.5:n.262+240_262+241insCCCTACCCTTTG
ENST00000543369.5:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000441492.1:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000544211.5:c.-3+240_-3+241insCCCTACCCTTTG	ENSP00000443839.1:n.-3+240_-3+241insCCCTACCCTTTG
ENST00000544889.1:c.-77_-76insCCCTACCCTTTG	ENSP00000445799.1:n.-77_-76insCCCTACCCTTTG
NM_001297709.1:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284638.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297710.1:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284639.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297711.1:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284640.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297712.1:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284641.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_003480.3:c.-3+240_-3+241insCCCTACCCTTTG	NP_003471.1:n.-3+240_-3+241insCCCTACCCTTTG
NR_123733.1:n.262+240_262+241insCCCTACCCTTTG
NR_123734.1:n.262+240_262+241insCCCTACCCTTTG
NM_003480.4:c.-3+240_-3+241insCCCTACCCTTTG MANE Select	NP_003471.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297709.2:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284638.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297710.2:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284639.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297711.2:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284640.1:n.-3+240_-3+241insCCCTACCCTTTG
NM_001297712.2:c.-3+240_-3+241insCCCTACCCTTTG	NP_001284641.1:n.-3+240_-3+241insCCCTACCCTTTG
NR_123733.2:n.200+240_200+241insCCCTACCCTTTG
NR_123734.2:n.200+240_200+241insCCCTACCCTTTG