Canonical Allele Identifier: CA2499222963

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425412_48425413delinsAT , CM000677.2:g.48425412_48425413delinsAT	GRCh38
NC_000015.9:g.48717609_48717610delinsAT , CM000677.1:g.48717609_48717610delinsAT	GRCh37
NC_000015.8:g.46504901_46504902delinsAT	NCBI36
NG_008805.2:g.225376_225377delinsAT , LRG_778:g.225376_225377delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.7409_7410delinsAT MANE Select	NP_000129.3:p.Cys2470Tyr
ENST00000316623.10:c.7409_7410delinsAT MANE Select	ENSP00000325527.5:p.Cys2470Tyr
NM_000138.4:c.7409_7410delinsAT , LRG_778t1:c.7409_7410delinsAT	NP_000129.3:p.Cys2470Tyr
ENST00000316623.9:c.7409_7410delinsAT	ENSP00000325527.5:p.Cys2470Tyr
ENST00000559133.5:c.2778_2779delinsAT
ENST00000559133.6:c.*217_*218delinsAT	ENSP00000453958.2:n.*217_*218delinsAT
ENST00000674301.1:c.2575_2576delinsAT	ENSP00000501333.1:n.2575_2576delinsAT
ENST00000674301.2:c.*922_*923delinsAT	ENSP00000501333.2:n.*922_*923delinsAT
ENST00000682170.1:n.1590_1591delinsAT
ENST00000682767.1:n.706_707delinsAT