Canonical Allele Identifier: CA2628347970

Gene: FBN1

Linked Data

• gnomAD v4: 15-48448894-C-CATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG , CM000677.2:g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG	GRCh38
NC_000015.9:g.48741091_48741092insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG , CM000677.1:g.48741091_48741092insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG	GRCh37
NC_000015.8:g.46528383_46528384insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAG	NCBI36
NG_008805.2:g.201894_201895insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT , LRG_778:g.201894_201895insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000453958.2:n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACC...
ENST00000674301.2:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000501333.2:n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACC...
ENST00000684448.1:n.4220-2_4220-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT
ENST00000316623.10:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT MANE Select	ENSP00000325527.5:n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACC...
ENST00000674301.1:c.545-2_545-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000501333.1:n.545-2_545-1insCTGTAAGCCCGGCTACCGCTTCACCTC...
ENST00000316623.9:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000325527.5:n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACC...
ENST00000537463.6:c.*1309-2_*1309-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000440294.2:n.*1309-2_*1309-1insCTGTAAGCCCGGCTACCGCTTCA...
ENST00000559133.5:c.853-2_853-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT
NM_000138.4:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT , LRG_778t1:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	NP_000129.3:n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACA...
NM_000138.5:c.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT MANE Select	NP_000129.3:n.5546-2_5546-1insCTGTAAGCCCGGCTACCGCTTCACCTCCACA...