Canonical Allele Identifier: CA2628347662

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445572-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445572_48445573insT , CM000677.2:g.48445572_48445573insT	GRCh38
NC_000015.9:g.48737769_48737770insT , CM000677.1:g.48737769_48737770insT	GRCh37
NC_000015.8:g.46525061_46525062insT	NCBI36
NG_008805.2:g.205216_205217insA , LRG_778:g.205216_205217insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-69_5789-68insA	ENSP00000453958.2:n.5789-69_5789-68insA
ENST00000674301.2:c.5789-69_5789-68insA	ENSP00000501333.2:n.5789-69_5789-68insA
ENST00000684448.1:n.4463-69_4463-68insA
ENST00000316623.10:c.5789-69_5789-68insA MANE Select	ENSP00000325527.5:n.5789-69_5789-68insA
ENST00000674301.1:c.788-69_788-68insA	ENSP00000501333.1:n.788-69_788-68insA
ENST00000316623.9:c.5789-69_5789-68insA	ENSP00000325527.5:n.5789-69_5789-68insA
ENST00000537463.6:c.*1552-69_*1552-68insA	ENSP00000440294.2:n.*1552-69_*1552-68insA
ENST00000559133.5:c.1096-69_1096-68insA
NM_000138.4:c.5789-69_5789-68insA , LRG_778t1:c.5789-69_5789-68insA	NP_000129.3:n.5789-69_5789-68insA
NM_000138.5:c.5789-69_5789-68insA MANE Select	NP_000129.3:n.5789-69_5789-68insA