Canonical Allele Identifier: CA2175497926

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428344A= , CM000677.2:g.48428344A=	GRCh38
NC_000015.9:g.48720541A= , CM000677.1:g.48720541A=	GRCh37
NC_000015.8:g.46507833A=	NCBI36
NG_008805.2:g.222445T= , LRG_778:g.222445T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+2T=	ENSP00000453958.2:n.6997+2T=
ENST00000674301.2:c.*448+2T=	ENSP00000501333.2:n.*448+2T=
ENST00000682170.1:n.608T=
ENST00000682767.1:n.232+2T=
ENST00000316623.10:c.6997+2T= MANE Select	ENSP00000325527.5:n.6997+2T=
ENST00000674301.1:c.2101+2T=	ENSP00000501333.1:n.2101+2T=
ENST00000316623.9:c.6997+2T=	ENSP00000325527.5:n.6997+2T=
ENST00000559133.5:c.2304+2T=
ENST00000560720.1:n.286T=
NM_000138.4:c.6997+2T= , LRG_778t1:c.6997+2T=	NP_000129.3:n.6997+2T=
NM_000138.5:c.6997+2T= MANE Select	NP_000129.3:n.6997+2T=