Canonical Allele Identifier: CA2548582256

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGG , CM000677.2:g.48538023_48538024insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGG	GRCh38
NC_000015.9:g.48830220_48830221insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGG , CM000677.1:g.48830220_48830221insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGG	GRCh37
NC_000015.8:g.46617512_46617513insGTTGTGCTGCTCCGTATGAACTTCGGAAAGCAAGAATAGTCGTTGGGATGATGG	NCBI36
NG_008805.2:g.112766_112767insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC , LRG_778:g.112766_112767insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC	ENSP00000453958.2:n.539-215_539-214insCATCATCCCAACGACTATTCTTG...
ENST00000674301.2:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC	ENSP00000501333.2:n.539-215_539-214insCATCATCCCAACGACTATTCTTG...
ENST00000316623.10:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC MANE Select	ENSP00000325527.5:n.539-215_539-214insCATCATCCCAACGACTATTCTTG...
ENST00000316623.9:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC	ENSP00000325527.5:n.539-215_539-214insCATCATCCCAACGACTATTCTTG...
ENST00000537463.6:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC	ENSP00000440294.2:n.539-215_539-214insCATCATCCCAACGACTATTCTTG...
NM_000138.4:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC , LRG_778t1:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC	NP_000129.3:n.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCC...
NM_000138.5:c.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCCGAAGTTCATACGGAGCAGCACAACC MANE Select	NP_000129.3:n.539-215_539-214insCATCATCCCAACGACTATTCTTGCTTTCC...