Canonical Allele Identifier: CA2628347635

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445505-C-CTATACAGTCATTGTTGTGAGAAAGGATGAAACCATGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT , CM000677.2:g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT	GRCh38
NC_000015.9:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT , CM000677.1:g.48737703_48737704insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT	GRCh37
NC_000015.8:g.46524995_46524996insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT	NCBI36
NG_008805.2:g.205283_205284insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA , LRG_778:g.205283_205284insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA

Transcript Alleles

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