Canonical Allele Identifier: CA2175488086

Gene: FBN1

Linked Data

• dbSNP Id: rs2042874169
• gnomAD v4: 15-48412747-C-CGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412747_48412748insGGA , CM000677.2:g.48412747_48412748insGGA	GRCh38
NC_000015.9:g.48704944_48704945insGGA , CM000677.1:g.48704944_48704945insGGA	GRCh37
NC_000015.8:g.46492236_46492237insGGA	NCBI36
NG_008805.2:g.238041_238042insTCC , LRG_778:g.238041_238042insTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-5_*860-4insTCC	ENSP00000453958.2:n.*860-5_*860-4insTCC
ENST00000674301.2:c.*1565-5_*1565-4insTCC	ENSP00000501333.2:n.*1565-5_*1565-4insTCC
ENST00000682158.1:n.1433-5_1433-4insTCC
ENST00000682170.1:n.2233-5_2233-4insTCC
ENST00000682767.1:n.1349-5_1349-4insTCC
ENST00000316623.10:c.8052-5_8052-4insTCC MANE Select	ENSP00000325527.5:n.8052-5_8052-4insTCC
ENST00000674301.1:c.3218-5_3218-4insTCC	ENSP00000501333.1:n.3218-5_3218-4insTCC
ENST00000316623.9:c.8052-5_8052-4insTCC	ENSP00000325527.5:n.8052-5_8052-4insTCC
ENST00000559133.5:c.3421-5_3421-4insTCC
ENST00000561429.1:n.307-5_307-4insTCC
NM_000138.4:c.8052-5_8052-4insTCC , LRG_778t1:c.8052-5_8052-4insTCC	NP_000129.3:n.8052-5_8052-4insTCC
NM_000138.5:c.8052-5_8052-4insTCC MANE Select	NP_000129.3:n.8052-5_8052-4insTCC