Canonical Allele Identifier: CA2175537519

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520715_48520716delinsCG , CM000677.2:g.48520715_48520716delinsCG	GRCh38
NC_000015.9:g.48812912_48812913delinsCG , CM000677.1:g.48812912_48812913delinsCG	GRCh37
NC_000015.8:g.46600204_46600205delinsCG	NCBI36
NG_008805.2:g.130073_130074delinsCG , LRG_778:g.130073_130074delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1090_1091delinsCG	ENSP00000453958.2:p.Arg364=
ENST00000674301.2:c.1090_1091delinsCG	ENSP00000501333.2:p.Arg364=
ENST00000316623.10:c.1090_1091delinsCG MANE Select	ENSP00000325527.5:p.Arg364=
ENST00000316623.9:c.1090_1091delinsCG	ENSP00000325527.5:p.Arg364=
ENST00000537463.6:c.636+16995_636+16996delinsCG	ENSP00000440294.2:n.636+16995_636+16996delinsCG
NM_000138.4:c.1090_1091delinsCG , LRG_778t1:c.1090_1091delinsCG	NP_000129.3:p.Arg364=
NM_000138.5:c.1090_1091delinsCG MANE Select	NP_000129.3:p.Arg364=