Canonical Allele Identifier: CA658656472

Gene: FBN1

Linked Data

• ClinVar Variation Id: 457176
• ClinVar RCV Id: RCV000532677
• dbSNP Id: rs1555399095

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494240_48494250delinsGGTAAA , CM000677.2:g.48494240_48494250delinsGGTAAA	GRCh38
NC_000015.9:g.48786437_48786447delinsGGTAAA , CM000677.1:g.48786437_48786447delinsGGTAAA	GRCh37
NC_000015.8:g.46573729_46573739delinsGGTAAA	NCBI36
NG_008805.2:g.156539_156549delinsTTTACC , LRG_778:g.156539_156549delinsTTTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2682_2692delinsTTTACC	ENSP00000453958.2:p.Ile895LeufsTer8
ENST00000674301.2:c.2682_2692delinsTTTACC	ENSP00000501333.2:p.Ile895LeufsTer8
ENST00000684448.1:n.1356_1366delinsTTTACC
ENST00000316623.10:c.2682_2692delinsTTTACC MANE Select	ENSP00000325527.5:p.Ile895LeufsTer8
ENST00000316623.9:c.2682_2692delinsTTTACC	ENSP00000325527.5:p.Ile895LeufsTer8
ENST00000537463.6:c.637-19600_637-19590delinsTTTACC	ENSP00000440294.2:n.637-19600_637-19590delinsTTTACC
NM_000138.4:c.2682_2692delinsTTTACC , LRG_778t1:c.2682_2692delinsTTTACC	NP_000129.3:p.Ile895LeufsTer8
NM_000138.5:c.2682_2692delinsTTTACC MANE Select	NP_000129.3:p.Ile895LeufsTer8