Canonical Allele Identifier: CA2517039967

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG , CM000677.2:g.48538026_48538027insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG	GRCh38
NC_000015.9:g.48830223_48830224insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG , CM000677.1:g.48830223_48830224insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG	GRCh37
NC_000015.8:g.46617515_46617516insAGCCCGAAGTATTCAGCACCAAGAACATTATCATGGGGTTGGTAGCGGTGTCCTTCTGTGTGTTTAGCTCTTG	NCBI36
NG_008805.2:g.112762_112763insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT , LRG_778:g.112762_112763insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT	ENSP00000453958.2:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGA...
ENST00000674301.2:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT	ENSP00000501333.2:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGA...
ENST00000316623.10:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT MANE Select	ENSP00000325527.5:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGA...
ENST00000316623.9:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT	ENSP00000325527.5:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGA...
ENST00000537463.6:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT	ENSP00000440294.2:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGA...
NM_000138.4:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT , LRG_778t1:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT	NP_000129.3:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGC...
NM_000138.5:c.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGCTACCAACCCCATGATAATGTTCTTGGTGCTGAATACTTCGGGCT MANE Select	NP_000129.3:n.539-219_539-218insCAAGAGCTAAACACACAGAAGGACACCGC...