Canonical Allele Identifier: CA2175523891

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492393_48492396delinsCTTG , CM000677.2:g.48492393_48492396delinsCTTG	GRCh38
NC_000015.9:g.48784590_48784593delinsCTTG , CM000677.1:g.48784590_48784593delinsCTTG	GRCh37
NC_000015.8:g.46571882_46571885delinsCTTG	NCBI36
NG_008805.2:g.158393_158396delinsCAAG , LRG_778:g.158393_158396delinsCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+65_2854+68delinsCAAG	ENSP00000453958.2:n.2854+65_2854+68delinsCAAG
ENST00000674301.2:c.2854+65_2854+68delinsCAAG	ENSP00000501333.2:n.2854+65_2854+68delinsCAAG
ENST00000684448.1:n.1528+65_1528+68delinsCAAG
ENST00000316623.10:c.2854+65_2854+68delinsCAAG MANE Select	ENSP00000325527.5:n.2854+65_2854+68delinsCAAG
ENST00000316623.9:c.2854+65_2854+68delinsCAAG	ENSP00000325527.5:n.2854+65_2854+68delinsCAAG
ENST00000537463.6:c.637-17746_637-17743delinsCAAG	ENSP00000440294.2:n.637-17746_637-17743delinsCAAG
NM_000138.4:c.2854+65_2854+68delinsCAAG , LRG_778t1:c.2854+65_2854+68delinsCAAG	NP_000129.3:n.2854+65_2854+68delinsCAAG
NM_000138.5:c.2854+65_2854+68delinsCAAG MANE Select	NP_000129.3:n.2854+65_2854+68delinsCAAG