Canonical Allele Identifier: CA617837075

Gene: FBN1

Linked Data

• gnomAD v2: 15-48737703-T-TATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG
• gnomAD v4: 15-48445506-T-TATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG
• MyVariant Identifiers: chr15:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG (hg19) ; chr15:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG , CM000677.2:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG	GRCh38
NC_000015.9:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG , CM000677.1:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG	GRCh37
NC_000015.8:g.46524995_46524996insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG	NCBI36
NG_008805.2:g.205282_205283insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT , LRG_778:g.205282_205283insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT	ENSP00000453958.2:n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAAC...
ENST00000674301.2:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT	ENSP00000501333.2:n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAAC...
ENST00000684448.1:n.4463-3_4463-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT
ENST00000316623.10:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT MANE Select	ENSP00000325527.5:n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAAC...
ENST00000674301.1:c.788-3_788-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT	ENSP00000501333.1:n.788-3_788-2insCTGTGGGAATGGAACTTGCCGGAACAC...
ENST00000316623.9:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT	ENSP00000325527.5:n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAAC...
ENST00000537463.6:c.*1552-3_*1552-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT	ENSP00000440294.2:n.*1552-3_*1552-2insCTGTGGGAATGGAACTTGCCGGA...
ENST00000559133.5:c.1096-3_1096-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT
NM_000138.4:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT , LRG_778t1:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT	NP_000129.3:n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATT...
NM_000138.5:c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT MANE Select	NP_000129.3:n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATT...