Canonical Allele Identifier: CA2175486040

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410901_48410904delinsTATG , CM000677.2:g.48410901_48410904delinsTATG	GRCh38
NC_000015.9:g.48703098_48703101delinsTATG , CM000677.1:g.48703098_48703101delinsTATG	GRCh37
NC_000015.8:g.46490390_46490393delinsTATG	NCBI36
NG_008805.2:g.239885_239888delinsCATA , LRG_778:g.239885_239888delinsCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1510_*1513delinsCATA	ENSP00000453958.2:n.*1510_*1513delinsCATA
ENST00000682158.1:n.2083_2086delinsCATA
ENST00000682170.1:n.2883_2886delinsCATA
ENST00000682767.1:n.1999_2002delinsCATA
ENST00000316623.10:c.*86_*89delinsCATA MANE Select	ENSP00000325527.5:n.*86_*89delinsCATA
ENST00000316623.9:c.*86_*89delinsCATA	ENSP00000325527.5:n.*86_*89delinsCATA
ENST00000559133.5:c.4071_4074delinsCATA
NM_000138.4:c.*86_*89delinsCATA , LRG_778t1:c.*86_*89delinsCATA	NP_000129.3:n.*86_*89delinsCATA
NM_000138.5:c.*86_*89delinsCATA MANE Select	NP_000129.3:n.*86_*89delinsCATA