Canonical Allele Identifier: CA2175573539

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610804_48610806delinsCCC , CM000677.2:g.48610804_48610806delinsCCC	GRCh38
NC_000015.9:g.48903001_48903003delinsCCC , CM000677.1:g.48903001_48903003delinsCCC	GRCh37
NC_000015.8:g.46690293_46690295delinsCCC	NCBI36
NG_008805.2:g.39983_39985delinsGGG , LRG_778:g.39983_39985delinsGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.268_270delinsGGG	ENSP00000453958.2:p.Gly90=
ENST00000674301.2:c.268_270delinsGGG	ENSP00000501333.2:p.Gly90=
ENST00000316623.10:c.268_270delinsGGG MANE Select	ENSP00000325527.5:p.Gly90=
ENST00000316623.9:c.268_270delinsGGG	ENSP00000325527.5:p.Gly90=
ENST00000537463.6:c.268_270delinsGGG	ENSP00000440294.2:p.Gly90=
NM_000138.4:c.268_270delinsGGG , LRG_778t1:c.268_270delinsGGG	NP_000129.3:p.Gly90=
NM_000138.5:c.268_270delinsGGG MANE Select	NP_000129.3:p.Gly90=