Canonical Allele Identifier: CA2502309984

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434460_48434461insA , CM000677.2:g.48434460_48434461insA	GRCh38
NC_000015.9:g.48726657_48726658insA , CM000677.1:g.48726657_48726658insA	GRCh37
NC_000015.8:g.46513949_46513950insA	NCBI36
NG_008805.2:g.216328_216329insT , LRG_778:g.216328_216329insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+133_6616+134insT	ENSP00000453958.2:n.6616+133_6616+134insT
ENST00000674301.2:c.6616+133_6616+134insT	ENSP00000501333.2:n.6616+133_6616+134insT
ENST00000682170.1:n.225+133_225+134insT
ENST00000316623.10:c.6616+133_6616+134insT MANE Select	ENSP00000325527.5:n.6616+133_6616+134insT
ENST00000674301.1:c.1615+133_1615+134insT	ENSP00000501333.1:n.1615+133_1615+134insT
ENST00000316623.9:c.6616+133_6616+134insT	ENSP00000325527.5:n.6616+133_6616+134insT
ENST00000537463.6:c.*2379+133_*2379+134insT	ENSP00000440294.2:n.*2379+133_*2379+134insT
ENST00000559133.5:c.1923+133_1923+134insT
NM_000138.4:c.6616+133_6616+134insT , LRG_778t1:c.6616+133_6616+134insT	NP_000129.3:n.6616+133_6616+134insT
NM_000138.5:c.6616+133_6616+134insT MANE Select	NP_000129.3:n.6616+133_6616+134insT