Canonical Allele Identifier: CA2628325039

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411384-A-AGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411384_48411385insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAAC , CM000677.2:g.48411384_48411385insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAAC	GRCh38
NC_000015.9:g.48703581_48703582insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAAC , CM000677.1:g.48703581_48703582insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAAC	GRCh37
NC_000015.8:g.46490873_46490874insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAAC	NCBI36
NG_008805.2:g.239404_239405insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC , LRG_778:g.239404_239405insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-6_*1035-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC	ENSP00000453958.2:n.*1035-6_*1035-5insGTTACGAGTGTAAGATCAATGGC...
ENST00000674301.2:c.*1740-6_*1740-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC	ENSP00000501333.2:n.*1740-6_*1740-5insGTTACGAGTGTAAGATCAATGGC...
ENST00000682158.1:n.1608-6_1608-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC
ENST00000682170.1:n.2408-6_2408-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC
ENST00000682767.1:n.1524-6_1524-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC
ENST00000316623.10:c.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC MANE Select	ENSP00000325527.5:n.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTA...
ENST00000674301.1:c.3393-6_3393-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC	ENSP00000501333.1:n.3393-6_3393-5insGTTACGAGTGTAAGATCAATGGCTA...
ENST00000316623.9:c.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC	ENSP00000325527.5:n.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTA...
ENST00000559133.5:c.3596-6_3596-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC
ENST00000561429.1:n.482-6_482-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC
NM_000138.4:c.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC , LRG_778t1:c.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC	NP_000129.3:n.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAA...
NM_000138.5:c.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC MANE Select	NP_000129.3:n.8227-6_8227-5insGTTACGAGTGTAAGATCAATGGCTACCCCAA...