Canonical Allele Identifier: CA2175518244

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468043_48468045delinsCTG , CM000677.2:g.48468043_48468045delinsCTG	GRCh38
NC_000015.9:g.48760240_48760242delinsCTG , CM000677.1:g.48760240_48760242delinsCTG	GRCh37
NC_000015.8:g.46547532_46547534delinsCTG	NCBI36
NG_008805.2:g.182744_182746delinsCAG , LRG_778:g.182744_182746delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4640_4642delinsCAG	ENSP00000453958.2:p.Thr1547=
ENST00000674301.2:c.4640_4642delinsCAG	ENSP00000501333.2:p.Thr1547=
ENST00000684448.1:n.3314_3316delinsCAG
ENST00000316623.10:c.4640_4642delinsCAG MANE Select	ENSP00000325527.5:p.Thr1547=
ENST00000316623.9:c.4640_4642delinsCAG	ENSP00000325527.5:p.Thr1547=
ENST00000537463.6:c.*403_*405delinsCAG	ENSP00000440294.2:n.*403_*405delinsCAG
NM_000138.4:c.4640_4642delinsCAG , LRG_778t1:c.4640_4642delinsCAG	NP_000129.3:p.Thr1547=
NM_000138.5:c.4640_4642delinsCAG MANE Select	NP_000129.3:p.Thr1547=