Canonical Allele Identifier: CA2175493039

Gene: FBN1

Linked Data

• dbSNP Id: rs2043152573

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445582dup , CM000677.2:g.48445582dup	GRCh38
NC_000015.9:g.48737779dup , CM000677.1:g.48737779dup	GRCh37
NC_000015.8:g.46525071dup	NCBI36
NG_008805.2:g.205207dup , LRG_778:g.205207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-78dup	ENSP00000453958.2:n.5789-78dup
ENST00000674301.2:c.5789-78dup	ENSP00000501333.2:n.5789-78dup
ENST00000684448.1:n.4463-78dup
ENST00000316623.10:c.5789-78dup MANE Select	ENSP00000325527.5:n.5789-78dup
ENST00000674301.1:c.788-78dup	ENSP00000501333.1:n.788-78dup
ENST00000316623.9:c.5789-78dup	ENSP00000325527.5:n.5789-78dup
ENST00000537463.6:c.*1552-78dup	ENSP00000440294.2:n.*1552-78dup
ENST00000559133.5:c.1096-78dup
NM_000138.4:c.5789-78dup , LRG_778t1:c.5789-78dup	NP_000129.3:n.5789-78dup
NM_000138.5:c.5789-78dup MANE Select	NP_000129.3:n.5789-78dup