Canonical Allele Identifier: CA2840296131

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887287dup , CM000676.2:g.91887287dup	GRCh38
NC_000014.8:g.92353631dup , CM000676.1:g.92353631dup	GRCh37
NC_000014.7:g.91423384dup	NCBI36
NG_008254.1:g.65419dup , LRG_364:g.65419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*614dup	ENSP00000451002.1:n.*614dup
ENST00000557570.2:c.480dup	ENSP00000450787.2:p.Cys161LeufsTer17
ENST00000706676.1:c.822dup	ENSP00000516492.1:p.Cys275LeufsTer17
ENST00000706677.1:c.648dup	ENSP00000516493.1:p.Cys217LeufsTer17
ENST00000706678.1:n.568dup
ENST00000706679.1:c.480dup	ENSP00000516494.1:p.Cys161LeufsTer17
ENST00000706680.1:c.*491dup	ENSP00000516495.1:n.*491dup
ENST00000706681.1:c.*387dup	ENSP00000516496.1:n.*387dup
ENST00000342058.9:c.648dup MANE Select	ENSP00000345008.4:p.Cys217LeufsTer17
ENST00000267620.14:c.771dup	ENSP00000267620.10:p.Cys258LeufsTer17
ENST00000342058.8:c.648dup	ENSP00000345008.4:p.Cys217LeufsTer17
ENST00000556154.5:c.663dup	ENSP00000451982.1:p.Cys222LeufsTer17
NM_006329.3:c.648dup , LRG_364t1:c.648dup	NP_006320.2:p.Cys217LeufsTer17
XM_005267267.3:c.699dup	XP_005267324.1:p.Cys234LeufsTer17
XM_011536356.1:c.699dup	XP_011534658.1:p.Cys234LeufsTer17
XM_011536357.1:c.648dup	XP_011534659.1:p.Cys217LeufsTer17
XM_011536358.1:c.480dup	XP_011534660.1:p.Cys161LeufsTer17
XM_011536357.2:c.648dup	XP_011534659.1:p.Cys217LeufsTer17
XM_011536358.2:c.480dup	XP_011534660.1:p.Cys161LeufsTer17
XM_017020929.2:c.480dup	XP_016876418.1:p.Cys161LeufsTer17
NM_001384158.1:c.771dup	NP_001371087.1:p.Cys258LeufsTer17
NM_001384159.1:c.699dup	NP_001371088.1:p.Cys234LeufsTer17
NM_001384160.1:c.648dup	NP_001371089.1:p.Cys217LeufsTer17
NM_001384161.1:c.480dup	NP_001371090.1:p.Cys161LeufsTer17
NM_001384162.1:c.480dup	NP_001371091.1:p.Cys161LeufsTer17
NM_006329.4:c.648dup MANE Select	NP_006320.2:p.Cys217LeufsTer17