Canonical Allele Identifier: CA2175486587

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411245_48411247delinsCAG , CM000677.2:g.48411245_48411247delinsCAG	GRCh38
NC_000015.9:g.48703442_48703444delinsCAG , CM000677.1:g.48703442_48703444delinsCAG	GRCh37
NC_000015.8:g.46490734_46490736delinsCAG	NCBI36
NG_008805.2:g.239542_239544delinsCTG , LRG_778:g.239542_239544delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1167_*1169delinsCTG	ENSP00000453958.2:n.*1167_*1169delinsCTG
ENST00000674301.2:c.*1872_*1874delinsCTG	ENSP00000501333.2:n.*1872_*1874delinsCTG
ENST00000682158.1:n.1740_1742delinsCTG
ENST00000682170.1:n.2540_2542delinsCTG
ENST00000682767.1:n.1656_1658delinsCTG
ENST00000316623.10:c.8359_8361delinsCTG MANE Select	ENSP00000325527.5:p.Leu2787=
ENST00000674301.1:c.3525_3527delinsCTG	ENSP00000501333.1:n.3525_3527delinsCTG
ENST00000316623.9:c.8359_8361delinsCTG	ENSP00000325527.5:p.Leu2787=
ENST00000559133.5:c.3728_3730delinsCTG
ENST00000561429.1:n.614_616delinsCTG
NM_000138.4:c.8359_8361delinsCTG , LRG_778t1:c.8359_8361delinsCTG	NP_000129.3:p.Leu2787=
NM_000138.5:c.8359_8361delinsCTG MANE Select	NP_000129.3:p.Leu2787=