Canonical Allele Identifier: CA2628331772

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492359-G-GTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492363_48492366dup , CM000677.2:g.48492363_48492366dup	GRCh38
NC_000015.9:g.48784560_48784563dup , CM000677.1:g.48784560_48784563dup	GRCh37
NC_000015.8:g.46571852_46571855dup	NCBI36
NG_008805.2:g.158426_158429dup , LRG_778:g.158426_158429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+98_2854+101dup	ENSP00000453958.2:n.2854+98_2854+101dup
ENST00000674301.2:c.2854+98_2854+101dup	ENSP00000501333.2:n.2854+98_2854+101dup
ENST00000684448.1:n.1528+98_1528+101dup
ENST00000316623.10:c.2854+98_2854+101dup MANE Select	ENSP00000325527.5:n.2854+98_2854+101dup
ENST00000316623.9:c.2854+98_2854+101dup	ENSP00000325527.5:n.2854+98_2854+101dup
ENST00000537463.6:c.637-17713_637-17710dup	ENSP00000440294.2:n.637-17713_637-17710dup
NM_000138.4:c.2854+98_2854+101dup , LRG_778t1:c.2854+98_2854+101dup	NP_000129.3:n.2854+98_2854+101dup
NM_000138.5:c.2854+98_2854+101dup MANE Select	NP_000129.3:n.2854+98_2854+101dup