Canonical Allele Identifier: CA2626161305

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91877767-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877767A>C , CM000676.2:g.91877767A>C	GRCh38
NC_000014.8:g.92344111A>C , CM000676.1:g.92344111A>C	GRCh37
NC_000014.7:g.91413864A>C	NCBI36
NG_008254.1:g.74936T>G , LRG_364:g.74936T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*956-85T>G	ENSP00000451002.1:n.*956-85T>G
ENST00000557570.2:c.822-85T>G	ENSP00000450787.2:n.822-85T>G
ENST00000706675.1:n.805-85T>G
ENST00000706676.1:c.1164-85T>G	ENSP00000516492.1:n.1164-85T>G
ENST00000706677.1:c.990-85T>G	ENSP00000516493.1:n.990-85T>G
ENST00000706678.1:n.910-85T>G
ENST00000706679.1:c.822-85T>G	ENSP00000516494.1:n.822-85T>G
ENST00000706680.1:c.*833-85T>G	ENSP00000516495.1:n.*833-85T>G
ENST00000706681.1:c.*729-85T>G	ENSP00000516496.1:n.*729-85T>G
ENST00000342058.9:c.990-85T>G MANE Select	ENSP00000345008.4:n.990-85T>G
ENST00000267620.14:c.1113-85T>G	ENSP00000267620.10:n.1113-85T>G
ENST00000342058.8:c.990-85T>G	ENSP00000345008.4:n.990-85T>G
ENST00000554121.2:n.116-85T>G
ENST00000556154.5:c.1005-85T>G	ENSP00000451982.1:n.1005-85T>G
NM_006329.3:c.990-85T>G , LRG_364t1:c.990-85T>G	NP_006320.2:n.990-85T>G
XM_005267267.3:c.1041-85T>G	XP_005267324.1:n.1041-85T>G
XM_011536356.1:c.1041-85T>G	XP_011534658.1:n.1041-85T>G
XM_011536357.1:c.990-85T>G	XP_011534659.1:n.990-85T>G
XM_011536358.1:c.822-85T>G	XP_011534660.1:n.822-85T>G
XM_011536357.2:c.990-85T>G	XP_011534659.1:n.990-85T>G
XM_011536358.2:c.822-85T>G	XP_011534660.1:n.822-85T>G
XM_017020929.2:c.822-85T>G	XP_016876418.1:n.822-85T>G
NM_001384158.1:c.1113-85T>G	NP_001371087.1:n.1113-85T>G
NM_001384159.1:c.1041-85T>G	NP_001371088.1:n.1041-85T>G
NM_001384160.1:c.990-85T>G	NP_001371089.1:n.990-85T>G
NM_001384161.1:c.822-85T>G	NP_001371090.1:n.822-85T>G
NM_001384162.1:c.822-85T>G	NP_001371091.1:n.822-85T>G
NM_006329.4:c.990-85T>G MANE Select	NP_006320.2:n.990-85T>G