Canonical Allele Identifier: CA2695220271

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446811_48446812insAA , CM000677.2:g.48446811_48446812insAA	GRCh38
NC_000015.9:g.48739008_48739009insAA , CM000677.1:g.48739008_48739009insAA	GRCh37
NC_000015.8:g.46526300_46526301insAA	NCBI36
NG_008805.2:g.203978_203979insTT , LRG_778:g.203978_203979insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5683_5684insTT	ENSP00000453958.2:p.Cys1895PhefsTer?
ENST00000674301.2:c.5683_5684insTT	ENSP00000501333.2:p.Cys1895PhefsTer?
ENST00000684448.1:n.4357_4358insTT
ENST00000316623.10:c.5683_5684insTT MANE Select	ENSP00000325527.5:p.Cys1895PhefsTer?
ENST00000674301.1:c.682_683insTT	ENSP00000501333.1:p.Cys228PhefsTer?
ENST00000316623.9:c.5683_5684insTT	ENSP00000325527.5:p.Cys1895PhefsTer?
ENST00000537463.6:c.*1446_*1447insTT	ENSP00000440294.2:n.*1446_*1447insTT
ENST00000559133.5:c.990_991insTT
NM_000138.4:c.5683_5684insTT , LRG_778t1:c.5683_5684insTT	NP_000129.3:p.Cys1895PhefsTer?
NM_000138.5:c.5683_5684insTT MANE Select	NP_000129.3:p.Cys1895PhefsTer?