Canonical Allele Identifier: CA2628347638

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445506-T-TATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG , CM000677.2:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG	GRCh38
NC_000015.9:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG , CM000677.1:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG	GRCh37
NC_000015.8:g.46524995_46524996insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG	NCBI36
NG_008805.2:g.205282_205283insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT , LRG_778:g.205282_205283insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT

Transcript Alleles

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