Canonical Allele Identifier: CA2175492387

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445399_48445400delinsGC , CM000677.2:g.48445399_48445400delinsGC	GRCh38
NC_000015.9:g.48737596_48737597delinsGC , CM000677.1:g.48737596_48737597delinsGC	GRCh37
NC_000015.8:g.46524888_46524889delinsGC	NCBI36
NG_008805.2:g.205389_205390delinsGC , LRG_778:g.205389_205390delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5893_5894delinsGC	ENSP00000453958.2:p.Ala1965=
ENST00000674301.2:c.5893_5894delinsGC	ENSP00000501333.2:p.Ala1965=
ENST00000684448.1:n.4567_4568delinsGC
ENST00000316623.10:c.5893_5894delinsGC MANE Select	ENSP00000325527.5:p.Ala1965=
ENST00000674301.1:c.892_893delinsGC	ENSP00000501333.1:p.Ala298=
ENST00000316623.9:c.5893_5894delinsGC	ENSP00000325527.5:p.Ala1965=
ENST00000537463.6:c.*1656_*1657delinsGC	ENSP00000440294.2:n.*1656_*1657delinsGC
ENST00000559133.5:c.1200_1201delinsGC
ENST00000560820.1:n.13_14delinsGC
NM_000138.4:c.5893_5894delinsGC , LRG_778t1:c.5893_5894delinsGC	NP_000129.3:p.Ala1965=
NM_000138.5:c.5893_5894delinsGC MANE Select	NP_000129.3:p.Ala1965=