Canonical Allele Identifier: CA2175486450

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411188_48411194delinsGATTTTA , CM000677.2:g.48411188_48411194delinsGATTTTA	GRCh38
NC_000015.9:g.48703385_48703391delinsGATTTTA , CM000677.1:g.48703385_48703391delinsGATTTTA	GRCh37
NC_000015.8:g.46490677_46490683delinsGATTTTA	NCBI36
NG_008805.2:g.239595_239601delinsTAAAATC , LRG_778:g.239595_239601delinsTAAAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1220_*1226delinsTAAAATC	ENSP00000453958.2:n.*1220_*1226delinsTAAAATC
ENST00000674301.2:c.*1925_*1931delinsTAAAATC	ENSP00000501333.2:n.*1925_*1931delinsTAAAATC
ENST00000682158.1:n.1793_1799delinsTAAAATC
ENST00000682170.1:n.2593_2599delinsTAAAATC
ENST00000682767.1:n.1709_1715delinsTAAAATC
ENST00000316623.10:c.8412_8418delinsTAAAATC MANE Select	ENSP00000325527.5:p.Phe2804=
ENST00000674301.1:c.3578_3584delinsTAAAATC	ENSP00000501333.1:n.3578_3584delinsTAAAATC
ENST00000316623.9:c.8412_8418delinsTAAAATC	ENSP00000325527.5:p.Phe2804=
ENST00000559133.5:c.3781_3787delinsTAAAATC
NM_000138.4:c.8412_8418delinsTAAAATC , LRG_778t1:c.8412_8418delinsTAAAATC	NP_000129.3:p.Phe2804=
NM_000138.5:c.8412_8418delinsTAAAATC MANE Select	NP_000129.3:p.Phe2804=