Canonical Allele Identifier: CA2804070351

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428129_48428130insAACCAAACACACCCAACACA , CM000677.2:g.48428129_48428130insAACCAAACACACCCAACACA	GRCh38
NC_000015.9:g.48720326_48720327insAACCAAACACACCCAACACA , CM000677.1:g.48720326_48720327insAACCAAACACACCCAACACA	GRCh37
NC_000015.8:g.46507618_46507619insAACCAAACACACCCAACACA	NCBI36
NG_008805.2:g.222660_222661insGTGTTGGGTGTGTTTGGTTT , LRG_778:g.222660_222661insGTGTTGGGTGTGTTTGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6998-186_6998-185insGTGTTGGGTGTGTTTGGTTT	ENSP00000453958.2:n.6998-186_6998-185insGTGTTGGGTGTGTTTGGTTT
ENST00000674301.2:c.*449-186_*449-185insGTGTTGGGTGTGTTTGGTTT	ENSP00000501333.2:n.*449-186_*449-185insGTGTTGGGTGTGTTTGGTTT
ENST00000682170.1:n.823_824insGTGTTGGGTGTGTTTGGTTT
ENST00000682767.1:n.233-186_233-185insGTGTTGGGTGTGTTTGGTTT
ENST00000316623.10:c.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT MANE Select	ENSP00000325527.5:n.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT
ENST00000674301.1:c.2102-186_2102-185insGTGTTGGGTGTGTTTGGTTT	ENSP00000501333.1:n.2102-186_2102-185insGTGTTGGGTGTGTTTGGTTT
ENST00000316623.9:c.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT	ENSP00000325527.5:n.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT
ENST00000559133.5:c.2305-186_2305-185insGTGTTGGGTGTGTTTGGTTT
ENST00000560720.1:n.501_502insGTGTTGGGTGTGTTTGGTTT
NM_000138.4:c.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT , LRG_778t1:c.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT	NP_000129.3:n.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT
NM_000138.5:c.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT MANE Select	NP_000129.3:n.6997+217_6997+218insGTGTTGGGTGTGTTTGGTTT