Canonical Allele Identifier: CA969579244

Gene: FBN1

Linked Data

• gnomAD v3: 15-48411384-A-AGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG
• gnomAD v4: 15-48411384-A-AGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411384_48411385insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG , CM000677.2:g.48411384_48411385insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG	GRCh38
NC_000015.9:g.48703581_48703582insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG , CM000677.1:g.48703581_48703582insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG	GRCh37
NC_000015.8:g.46490873_46490874insGGCATCAGTTTCGTTTGTGCTTCTCCGTTTCCTGCCCCGTTTGGGGTAGCCATTGATCTTACACTCGTAACAAGCCTCTGGGGAGAGTG	NCBI36
NG_008805.2:g.239404_239405insCACTCTCCCCAGAGGCTTGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC , LRG_778:g.239404_239405insCACTCTCCCCAGAGGCTTGTTACGAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCC

Transcript Alleles

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