Canonical Allele Identifier: CA692942922

Gene: MFAP5

Linked Data

• dbSNP Id: rs1341765436
• MyVariant Identifiers: chr12:g.8814958_8814959del (hg19) ; chr12:g.8662362_8662363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8662363_8662364del , CM000674.2:g.8662363_8662364del	GRCh38
NC_000012.11:g.8814959_8814960del , CM000674.1:g.8814959_8814960del	GRCh37
NC_000012.10:g.8706226_8706227del	NCBI36
NG_041814.1:g.5526_5527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359478.7:c.-2-257_-2-256del MANE Select	ENSP00000352455.2:n.-2-257_-2-256del
ENST00000359478.6:c.-2-257_-2-256del	ENSP00000352455.2:n.-2-257_-2-256del
ENST00000396549.6:c.-2-257_-2-256del	ENSP00000379798.2:n.-2-257_-2-256del
ENST00000433590.6:c.-2-257_-2-256del	ENSP00000411997.2:n.-2-257_-2-256del
ENST00000534833.5:n.50-257_50-256del
ENST00000535336.5:c.-2-257_-2-256del	ENSP00000438525.1:n.-2-257_-2-256del
ENST00000537009.5:c.-2-257_-2-256del	ENSP00000439289.1:n.-2-257_-2-256del
ENST00000537128.1:n.263-257_263-256del
ENST00000538107.5:n.263-257_263-256del
ENST00000543369.5:c.-2-257_-2-256del	ENSP00000441492.1:n.-2-257_-2-256del
ENST00000544211.5:c.-2-257_-2-256del	ENSP00000443839.1:n.-2-257_-2-256del
ENST00000544889.1:c.-53_-52del	ENSP00000445799.1:n.-53_-52del
NM_001297709.1:c.-2-257_-2-256del	NP_001284638.1:n.-2-257_-2-256del
NM_001297710.1:c.-2-257_-2-256del	NP_001284639.1:n.-2-257_-2-256del
NM_001297711.1:c.-2-257_-2-256del	NP_001284640.1:n.-2-257_-2-256del
NM_001297712.1:c.-2-257_-2-256del	NP_001284641.1:n.-2-257_-2-256del
NM_003480.3:c.-2-257_-2-256del	NP_003471.1:n.-2-257_-2-256del
NR_123733.1:n.263-257_263-256del
NR_123734.1:n.263-257_263-256del
NM_003480.4:c.-2-257_-2-256del MANE Select	NP_003471.1:n.-2-257_-2-256del
NM_001297709.2:c.-2-257_-2-256del	NP_001284638.1:n.-2-257_-2-256del
NM_001297710.2:c.-2-257_-2-256del	NP_001284639.1:n.-2-257_-2-256del
NM_001297711.2:c.-2-257_-2-256del	NP_001284640.1:n.-2-257_-2-256del
NM_001297712.2:c.-2-257_-2-256del	NP_001284641.1:n.-2-257_-2-256del
NR_123733.2:n.201-257_201-256del
NR_123734.2:n.201-257_201-256del