Canonical Allele Identifier: CA2628325044

Gene: FBN1

Linked Data

• gnomAD v4: 15-48411386-A-ATTGGAGGCATCAGTTTCGTTTGTGCTTCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411386_48411387insTTGGAGGCATCAGTTTCGTTTGTGCTTCTCC , CM000677.2:g.48411386_48411387insTTGGAGGCATCAGTTTCGTTTGTGCTTCTCC	GRCh38
NC_000015.9:g.48703583_48703584insTTGGAGGCATCAGTTTCGTTTGTGCTTCTCC , CM000677.1:g.48703583_48703584insTTGGAGGCATCAGTTTCGTTTGTGCTTCTCC	GRCh37
NC_000015.8:g.46490875_46490876insTTGGAGGCATCAGTTTCGTTTGTGCTTCTCC	NCBI36
NG_008805.2:g.239402_239403insGGAGAAGCACAAACGAAACTGATGCCTCCAA , LRG_778:g.239402_239403insGGAGAAGCACAAACGAAACTGATGCCTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-8_*1035-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA	ENSP00000453958.2:n.*1035-8_*1035-7insGGAGAAGCACAAACGAAACTGAT...
ENST00000674301.2:c.*1740-8_*1740-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA	ENSP00000501333.2:n.*1740-8_*1740-7insGGAGAAGCACAAACGAAACTGAT...
ENST00000682158.1:n.1608-8_1608-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA
ENST00000682170.1:n.2408-8_2408-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA
ENST00000682767.1:n.1524-8_1524-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA
ENST00000316623.10:c.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA MANE Select	ENSP00000325527.5:n.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGC...
ENST00000674301.1:c.3393-8_3393-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA	ENSP00000501333.1:n.3393-8_3393-7insGGAGAAGCACAAACGAAACTGATGC...
ENST00000316623.9:c.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA	ENSP00000325527.5:n.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGC...
ENST00000559133.5:c.3596-8_3596-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA
ENST00000561429.1:n.482-8_482-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA
NM_000138.4:c.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA , LRG_778t1:c.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA	NP_000129.3:n.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA...
NM_000138.5:c.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA MANE Select	NP_000129.3:n.8227-8_8227-7insGGAGAAGCACAAACGAAACTGATGCCTCCAA...