Canonical Allele Identifier: CA2628347636

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445506-T-TATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG , CM000677.2:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG	GRCh38
NC_000015.9:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG , CM000677.1:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG	GRCh37
NC_000015.8:g.46524995_46524996insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG	NCBI36
NG_008805.2:g.205282_205283insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT , LRG_778:g.205282_205283insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT

Transcript Alleles

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