Canonical Allele Identifier: CA2626161260

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91877673-CATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877674_91877676del , CM000676.2:g.91877674_91877676del	GRCh38
NC_000014.8:g.92344018_92344020del , CM000676.1:g.92344018_92344020del	GRCh37
NC_000014.7:g.91413771_91413773del	NCBI36
NG_008254.1:g.75027_75029del , LRG_364:g.75027_75029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*962_*964del	ENSP00000451002.1:n.*962_*964del
ENST00000557570.2:c.828_830del	ENSP00000450787.2:p.Cys276_Met277delinsTrp
ENST00000706675.1:n.811_813del
ENST00000706676.1:c.1170_1172del	ENSP00000516492.1:p.Cys390_Met391delinsTrp
ENST00000706677.1:c.996_998del	ENSP00000516493.1:p.Cys332_Met333delinsTrp
ENST00000706678.1:n.916_918del
ENST00000706679.1:c.828_830del	ENSP00000516494.1:p.Cys276_Met277delinsTrp
ENST00000706680.1:c.*839_*841del	ENSP00000516495.1:n.*839_*841del
ENST00000706681.1:c.*735_*737del	ENSP00000516496.1:n.*735_*737del
ENST00000342058.9:c.996_998del MANE Select	ENSP00000345008.4:p.Cys332_Met333delinsTrp
ENST00000267620.14:c.1119_1121del	ENSP00000267620.10:p.Cys373_Met374delinsTrp
ENST00000342058.8:c.996_998del	ENSP00000345008.4:p.Cys332_Met333delinsTrp
ENST00000554121.2:n.122_124del
ENST00000556154.5:c.1011_1013del	ENSP00000451982.1:p.Cys337_Met338delinsTrp
NM_006329.3:c.996_998del , LRG_364t1:c.996_998del	NP_006320.2:p.Cys332_Met333delinsTrp
XM_005267267.3:c.1047_1049del	XP_005267324.1:p.Cys349_Met350delinsTrp
XM_011536356.1:c.1047_1049del	XP_011534658.1:p.Cys349_Met350delinsTrp
XM_011536357.1:c.996_998del	XP_011534659.1:p.Cys332_Met333delinsTrp
XM_011536358.1:c.828_830del	XP_011534660.1:p.Cys276_Met277delinsTrp
XM_011536357.2:c.996_998del	XP_011534659.1:p.Cys332_Met333delinsTrp
XM_011536358.2:c.828_830del	XP_011534660.1:p.Cys276_Met277delinsTrp
XM_017020929.2:c.828_830del	XP_016876418.1:p.Cys276_Met277delinsTrp
NM_001384158.1:c.1119_1121del	NP_001371087.1:p.Cys373_Met374delinsTrp
NM_001384159.1:c.1047_1049del	NP_001371088.1:p.Cys349_Met350delinsTrp
NM_001384160.1:c.996_998del	NP_001371089.1:p.Cys332_Met333delinsTrp
NM_001384161.1:c.828_830del	NP_001371090.1:p.Cys276_Met277delinsTrp
NM_001384162.1:c.828_830del	NP_001371091.1:p.Cys276_Met277delinsTrp
NM_006329.4:c.996_998del MANE Select	NP_006320.2:p.Cys332_Met333delinsTrp