Canonical Allele Identifier: CA2575605234

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877658del , CM000676.2:g.91877658del	GRCh38
NC_000014.8:g.92344002del , CM000676.1:g.92344002del	GRCh37
NC_000014.7:g.91413755del	NCBI36
NG_008254.1:g.75047del , LRG_364:g.75047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*982del	ENSP00000451002.1:n.*982del
ENST00000557570.2:c.848del	ENSP00000450787.2:p.Pro283LeufsTer?
ENST00000706675.1:n.831del
ENST00000706676.1:c.1190del	ENSP00000516492.1:p.Pro397LeufsTer?
ENST00000706677.1:c.1016del	ENSP00000516493.1:p.Pro339LeufsTer?
ENST00000706678.1:n.936del
ENST00000706679.1:c.848del	ENSP00000516494.1:p.Pro283LeufsTer?
ENST00000706680.1:c.*859del	ENSP00000516495.1:n.*859del
ENST00000706681.1:c.*755del	ENSP00000516496.1:n.*755del
ENST00000342058.9:c.1016del MANE Select	ENSP00000345008.4:p.Pro339LeufsTer?
ENST00000267620.14:c.1139del	ENSP00000267620.10:p.Pro380LeufsTer?
ENST00000342058.8:c.1016del	ENSP00000345008.4:p.Pro339LeufsTer?
ENST00000554121.2:n.142del
ENST00000556154.5:c.1031del	ENSP00000451982.1:p.Pro344LeufsTer?
NM_006329.3:c.1016del , LRG_364t1:c.1016del	NP_006320.2:p.Pro339LeufsTer?
XM_005267267.3:c.1067del	XP_005267324.1:p.Pro356LeufsTer?
XM_011536356.1:c.1067del	XP_011534658.1:p.Pro356LeufsTer?
XM_011536357.1:c.1016del	XP_011534659.1:p.Pro339LeufsTer?
XM_011536358.1:c.848del	XP_011534660.1:p.Pro283LeufsTer?
XM_011536357.2:c.1016del	XP_011534659.1:p.Pro339LeufsTer?
XM_011536358.2:c.848del	XP_011534660.1:p.Pro283LeufsTer?
XM_017020929.2:c.848del	XP_016876418.1:p.Pro283LeufsTer?
NM_001384158.1:c.1139del	NP_001371087.1:p.Pro380LeufsTer?
NM_001384159.1:c.1067del	NP_001371088.1:p.Pro356LeufsTer?
NM_001384160.1:c.1016del	NP_001371089.1:p.Pro339LeufsTer?
NM_001384161.1:c.848del	NP_001371090.1:p.Pro283LeufsTer?
NM_001384162.1:c.848del	NP_001371091.1:p.Pro283LeufsTer?
NM_006329.4:c.1016del MANE Select	NP_006320.2:p.Pro339LeufsTer?