Canonical Allele Identifier: CA615754119

Gene: FBLN5

Linked Data

• dbSNP Id: rs1566804262
• gnomAD v2: 14-92353523-C-CGAA
• gnomAD v4: 14-91887179-C-CGAA
• MyVariant Identifiers: chr14:g.92353523_92353524insGAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91887180_91887182dup , CM000676.2:g.91887180_91887182dup	GRCh38
NC_000014.8:g.92353524_92353526dup , CM000676.1:g.92353524_92353526dup	GRCh37
NC_000014.7:g.91423277_91423279dup	NCBI36
NG_008254.1:g.65521_65523dup , LRG_364:g.65521_65523dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000557088.6:c.*705+11_*705+13dup	ENSP00000451002.1:n.*705+11_*705+13dup
ENST00000557570.2:c.571+11_571+13dup	ENSP00000450787.2:n.571+11_571+13dup
ENST00000706676.1:c.913+11_913+13dup	ENSP00000516492.1:n.913+11_913+13dup
ENST00000706677.1:c.739+11_739+13dup	ENSP00000516493.1:n.739+11_739+13dup
ENST00000706678.1:n.659+11_659+13dup
ENST00000706679.1:c.571+11_571+13dup	ENSP00000516494.1:n.571+11_571+13dup
ENST00000706680.1:c.*582+11_*582+13dup	ENSP00000516495.1:n.*582+11_*582+13dup
ENST00000706681.1:c.*478+11_*478+13dup	ENSP00000516496.1:n.*478+11_*478+13dup
ENST00000342058.9:c.739+11_739+13dup MANE Select	ENSP00000345008.4:n.739+11_739+13dup
ENST00000267620.14:c.862+11_862+13dup	ENSP00000267620.10:n.862+11_862+13dup
ENST00000342058.8:c.739+11_739+13dup	ENSP00000345008.4:n.739+11_739+13dup
ENST00000556154.5:c.754+11_754+13dup	ENSP00000451982.1:n.754+11_754+13dup
NM_006329.3:c.739+11_739+13dup , LRG_364t1:c.739+11_739+13dup	NP_006320.2:n.739+11_739+13dup
XM_005267267.3:c.790+11_790+13dup	XP_005267324.1:n.790+11_790+13dup
XM_011536356.1:c.790+11_790+13dup	XP_011534658.1:n.790+11_790+13dup
XM_011536357.1:c.739+11_739+13dup	XP_011534659.1:n.739+11_739+13dup
XM_011536358.1:c.571+11_571+13dup	XP_011534660.1:n.571+11_571+13dup
XM_011536357.2:c.739+11_739+13dup	XP_011534659.1:n.739+11_739+13dup
XM_011536358.2:c.571+11_571+13dup	XP_011534660.1:n.571+11_571+13dup
XM_017020929.2:c.571+11_571+13dup	XP_016876418.1:n.571+11_571+13dup
NM_001384158.1:c.862+11_862+13dup	NP_001371087.1:n.862+11_862+13dup
NM_001384159.1:c.790+11_790+13dup	NP_001371088.1:n.790+11_790+13dup
NM_001384160.1:c.739+11_739+13dup	NP_001371089.1:n.739+11_739+13dup
NM_001384161.1:c.571+11_571+13dup	NP_001371090.1:n.571+11_571+13dup
NM_001384162.1:c.571+11_571+13dup	NP_001371091.1:n.571+11_571+13dup
NM_006329.4:c.739+11_739+13dup MANE Select	NP_006320.2:n.739+11_739+13dup