Canonical Allele Identifier: CA2730862612

Gene: FBN1

Linked Data

• dbSNP Id: rs2141211950

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412841_48412842del , CM000677.2:g.48412841_48412842del	GRCh38
NC_000015.9:g.48705038_48705039del , CM000677.1:g.48705038_48705039del	GRCh37
NC_000015.8:g.46492330_46492331del	NCBI36
NG_008805.2:g.237949_237950del , LRG_778:g.237949_237950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-97_*860-96del	ENSP00000453958.2:n.*860-97_*860-96del
ENST00000674301.2:c.*1565-97_*1565-96del	ENSP00000501333.2:n.*1565-97_*1565-96del
ENST00000682158.1:n.1433-97_1433-96del
ENST00000682170.1:n.2233-97_2233-96del
ENST00000682767.1:n.1349-97_1349-96del
ENST00000316623.10:c.8052-97_8052-96del MANE Select	ENSP00000325527.5:n.8052-97_8052-96del
ENST00000674301.1:c.3218-97_3218-96del	ENSP00000501333.1:n.3218-97_3218-96del
ENST00000316623.9:c.8052-97_8052-96del	ENSP00000325527.5:n.8052-97_8052-96del
ENST00000559133.5:c.3421-97_3421-96del
ENST00000561429.1:n.307-97_307-96del
NM_000138.4:c.8052-97_8052-96del , LRG_778t1:c.8052-97_8052-96del	NP_000129.3:n.8052-97_8052-96del
NM_000138.5:c.8052-97_8052-96del MANE Select	NP_000129.3:n.8052-97_8052-96del