Canonical Allele Identifier: CA2626161261

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91877677-C-CCTGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877677_91877678insCTGTG , CM000676.2:g.91877677_91877678insCTGTG	GRCh38
NC_000014.8:g.92344021_92344022insCTGTG , CM000676.1:g.92344021_92344022insCTGTG	GRCh37
NC_000014.7:g.91413774_91413775insCTGTG	NCBI36
NG_008254.1:g.75025_75026insCACAG , LRG_364:g.75025_75026insCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*960_*961insCACAG	ENSP00000451002.1:n.*960_*961insCACAG
ENST00000557570.2:c.826_827insCACAG	ENSP00000450787.2:p.Cys276SerfsTer?
ENST00000706675.1:n.809_810insCACAG
ENST00000706676.1:c.1168_1169insCACAG	ENSP00000516492.1:p.Cys390SerfsTer?
ENST00000706677.1:c.994_995insCACAG	ENSP00000516493.1:p.Cys332SerfsTer?
ENST00000706678.1:n.914_915insCACAG
ENST00000706679.1:c.826_827insCACAG	ENSP00000516494.1:p.Cys276SerfsTer?
ENST00000706680.1:c.*837_*838insCACAG	ENSP00000516495.1:n.*837_*838insCACAG
ENST00000706681.1:c.*733_*734insCACAG	ENSP00000516496.1:n.*733_*734insCACAG
ENST00000342058.9:c.994_995insCACAG MANE Select	ENSP00000345008.4:p.Cys332SerfsTer?
ENST00000267620.14:c.1117_1118insCACAG	ENSP00000267620.10:p.Cys373SerfsTer?
ENST00000342058.8:c.994_995insCACAG	ENSP00000345008.4:p.Cys332SerfsTer?
ENST00000554121.2:n.120_121insCACAG
ENST00000556154.5:c.1009_1010insCACAG	ENSP00000451982.1:p.Cys337SerfsTer?
NM_006329.3:c.994_995insCACAG , LRG_364t1:c.994_995insCACAG	NP_006320.2:p.Cys332SerfsTer?
XM_005267267.3:c.1045_1046insCACAG	XP_005267324.1:p.Cys349SerfsTer?
XM_011536356.1:c.1045_1046insCACAG	XP_011534658.1:p.Cys349SerfsTer?
XM_011536357.1:c.994_995insCACAG	XP_011534659.1:p.Cys332SerfsTer?
XM_011536358.1:c.826_827insCACAG	XP_011534660.1:p.Cys276SerfsTer?
XM_011536357.2:c.994_995insCACAG	XP_011534659.1:p.Cys332SerfsTer?
XM_011536358.2:c.826_827insCACAG	XP_011534660.1:p.Cys276SerfsTer?
XM_017020929.2:c.826_827insCACAG	XP_016876418.1:p.Cys276SerfsTer?
NM_001384158.1:c.1117_1118insCACAG	NP_001371087.1:p.Cys373SerfsTer?
NM_001384159.1:c.1045_1046insCACAG	NP_001371088.1:p.Cys349SerfsTer?
NM_001384160.1:c.994_995insCACAG	NP_001371089.1:p.Cys332SerfsTer?
NM_001384161.1:c.826_827insCACAG	NP_001371090.1:p.Cys276SerfsTer?
NM_001384162.1:c.826_827insCACAG	NP_001371091.1:p.Cys276SerfsTer?
NM_006329.4:c.994_995insCACAG MANE Select	NP_006320.2:p.Cys332SerfsTer?