Canonical Allele Identifier: CA2804070419

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445529_48445531del , CM000677.2:g.48445529_48445531del	GRCh38
NC_000015.9:g.48737726_48737728del , CM000677.1:g.48737726_48737728del	GRCh37
NC_000015.8:g.46525018_46525020del	NCBI36
NG_008805.2:g.205258_205260del , LRG_778:g.205258_205260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-27_5789-25del	ENSP00000453958.2:n.5789-27_5789-25del
ENST00000674301.2:c.5789-27_5789-25del	ENSP00000501333.2:n.5789-27_5789-25del
ENST00000684448.1:n.4463-27_4463-25del
ENST00000316623.10:c.5789-27_5789-25del MANE Select	ENSP00000325527.5:n.5789-27_5789-25del
ENST00000674301.1:c.788-27_788-25del	ENSP00000501333.1:n.788-27_788-25del
ENST00000316623.9:c.5789-27_5789-25del	ENSP00000325527.5:n.5789-27_5789-25del
ENST00000537463.6:c.*1552-27_*1552-25del	ENSP00000440294.2:n.*1552-27_*1552-25del
ENST00000559133.5:c.1096-27_1096-25del
NM_000138.4:c.5789-27_5789-25del , LRG_778t1:c.5789-27_5789-25del	NP_000129.3:n.5789-27_5789-25del
NM_000138.5:c.5789-27_5789-25del MANE Select	NP_000129.3:n.5789-27_5789-25del