Canonical Allele Identifier: CA2175486354

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411142_48411145delinsGCTT , CM000677.2:g.48411142_48411145delinsGCTT	GRCh38
NC_000015.9:g.48703339_48703342delinsGCTT , CM000677.1:g.48703339_48703342delinsGCTT	GRCh37
NC_000015.8:g.46490631_46490634delinsGCTT	NCBI36
NG_008805.2:g.239644_239647delinsAAGC , LRG_778:g.239644_239647delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1269_*1272delinsAAGC	ENSP00000453958.2:n.*1269_*1272delinsAAGC
ENST00000674301.2:c.*1974_*1977delinsAAGC	ENSP00000501333.2:n.*1974_*1977delinsAAGC
ENST00000682158.1:n.1842_1845delinsAAGC
ENST00000682170.1:n.2642_2645delinsAAGC
ENST00000682767.1:n.1758_1761delinsAAGC
ENST00000316623.10:c.8461_8464delinsAAGC MANE Select	ENSP00000325527.5:p.Lys2821=
ENST00000674301.1:c.3627_3630delinsAAGC	ENSP00000501333.1:n.3627_3630delinsAAGC
ENST00000316623.9:c.8461_8464delinsAAGC	ENSP00000325527.5:p.Lys2821=
ENST00000559133.5:c.3830_3833delinsAAGC
NM_000138.4:c.8461_8464delinsAAGC , LRG_778t1:c.8461_8464delinsAAGC	NP_000129.3:p.Lys2821=
NM_000138.5:c.8461_8464delinsAAGC MANE Select	NP_000129.3:p.Lys2821=