Canonical Allele Identifier: CA2175518409

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468418_48468419delinsAG , CM000677.2:g.48468418_48468419delinsAG	GRCh38
NC_000015.9:g.48760615_48760616delinsAG , CM000677.1:g.48760615_48760616delinsAG	GRCh37
NC_000015.8:g.46547907_46547908delinsAG	NCBI36
NG_008805.2:g.182370_182371delinsCT , LRG_778:g.182370_182371delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4575_4576delinsCT	ENSP00000453958.2:p.Gly1525=
ENST00000674301.2:c.4575_4576delinsCT	ENSP00000501333.2:p.Gly1525=
ENST00000684448.1:n.3249_3250delinsCT
ENST00000316623.10:c.4575_4576delinsCT MANE Select	ENSP00000325527.5:p.Gly1525=
ENST00000316623.9:c.4575_4576delinsCT	ENSP00000325527.5:p.Gly1525=
ENST00000537463.6:c.*338_*339delinsCT	ENSP00000440294.2:n.*338_*339delinsCT
NM_000138.4:c.4575_4576delinsCT , LRG_778t1:c.4575_4576delinsCT	NP_000129.3:p.Gly1525=
NM_000138.5:c.4575_4576delinsCT MANE Select	NP_000129.3:p.Gly1525=