Canonical Allele Identifier: CA2175486090

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410999_48411001delinsCAA , CM000677.2:g.48410999_48411001delinsCAA	GRCh38
NC_000015.9:g.48703196_48703198delinsCAA , CM000677.1:g.48703196_48703198delinsCAA	GRCh37
NC_000015.8:g.46490488_46490490delinsCAA	NCBI36
NG_008805.2:g.239788_239790delinsTTG , LRG_778:g.239788_239790delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1413_*1415delinsTTG	ENSP00000453958.2:n.*1413_*1415delinsTTG
ENST00000682158.1:n.1986_1988delinsTTG
ENST00000682170.1:n.2786_2788delinsTTG
ENST00000682767.1:n.1902_1904delinsTTG
ENST00000316623.10:c.8605_8607delinsTTG MANE Select	ENSP00000325527.5:p.Leu2869=
ENST00000316623.9:c.8605_8607delinsTTG	ENSP00000325527.5:p.Leu2869=
ENST00000559133.5:c.3974_3976delinsTTG
NM_000138.4:c.8605_8607delinsTTG , LRG_778t1:c.8605_8607delinsTTG	NP_000129.3:p.Leu2869=
NM_000138.5:c.8605_8607delinsTTG MANE Select	NP_000129.3:p.Leu2869=