Canonical Allele Identifier: CA2626159591

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91870254-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870255del , CM000676.2:g.91870255del	GRCh38
NC_000014.8:g.92336599del , CM000676.1:g.92336599del	GRCh37
NC_000014.7:g.91406352del	NCBI36
NG_008254.1:g.82448del , LRG_364:g.82448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1282del	ENSP00000451002.1:n.*1282del
ENST00000557570.2:c.1148del	ENSP00000450787.2:p.Leu383ArgfsTer?
ENST00000706675.1:n.1131del
ENST00000706676.1:c.1490del	ENSP00000516492.1:p.Leu497ArgfsTer?
ENST00000706677.1:c.*100del	ENSP00000516493.1:n.*100del
ENST00000706678.1:n.1236del
ENST00000706679.1:c.1148del	ENSP00000516494.1:p.Leu383ArgfsTer?
ENST00000706680.1:c.*1159del	ENSP00000516495.1:n.*1159del
ENST00000706681.1:c.*1055del	ENSP00000516496.1:n.*1055del
ENST00000342058.9:c.1316del MANE Select	ENSP00000345008.4:p.Leu439ArgfsTer?
ENST00000267620.14:c.1439del	ENSP00000267620.10:p.Leu480ArgfsTer?
ENST00000342058.8:c.1316del	ENSP00000345008.4:p.Leu439ArgfsTer?
ENST00000554121.2:n.442del
ENST00000556154.5:c.1331del	ENSP00000451982.1:p.Leu444ArgfsTer?
ENST00000556961.1:n.1451del
NM_006329.3:c.1316del , LRG_364t1:c.1316del	NP_006320.2:p.Leu439ArgfsTer?
XM_005267267.3:c.1367del	XP_005267324.1:p.Leu456ArgfsTer?
XM_011536356.1:c.*100del	XP_011534658.1:n.*100del
XM_011536357.1:c.*100del	XP_011534659.1:n.*100del
XM_011536358.1:c.*100del	XP_011534660.1:n.*100del
XM_011536357.2:c.*100del	XP_011534659.1:n.*100del
XM_011536358.2:c.*100del	XP_011534660.1:n.*100del
XM_017020929.2:c.1148del	XP_016876418.1:p.Leu383ArgfsTer?
NM_001384158.1:c.1439del	NP_001371087.1:p.Leu480ArgfsTer?
NM_001384159.1:c.1367del	NP_001371088.1:p.Leu456ArgfsTer?
NM_001384160.1:c.*100del	NP_001371089.1:n.*100del
NM_001384161.1:c.*100del	NP_001371090.1:n.*100del
NM_001384162.1:c.1148del	NP_001371091.1:p.Leu383ArgfsTer?
NM_006329.4:c.1316del MANE Select	NP_006320.2:p.Leu439ArgfsTer?