Canonical Allele Identifier: CA2628331765

Gene: FBN1

Linked Data

• gnomAD v4: 15-48492354-A-AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48492361_48492362dup , CM000677.2:g.48492361_48492362dup	GRCh38
NC_000015.9:g.48784558_48784559dup , CM000677.1:g.48784558_48784559dup	GRCh37
NC_000015.8:g.46571850_46571851dup	NCBI36
NG_008805.2:g.158433_158434dup , LRG_778:g.158433_158434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2854+105_2854+106dup	ENSP00000453958.2:n.2854+105_2854+106dup
ENST00000674301.2:c.2854+105_2854+106dup	ENSP00000501333.2:n.2854+105_2854+106dup
ENST00000684448.1:n.1528+105_1528+106dup
ENST00000316623.10:c.2854+105_2854+106dup MANE Select	ENSP00000325527.5:n.2854+105_2854+106dup
ENST00000316623.9:c.2854+105_2854+106dup	ENSP00000325527.5:n.2854+105_2854+106dup
ENST00000537463.6:c.637-17706_637-17705dup	ENSP00000440294.2:n.637-17706_637-17705dup
NM_000138.4:c.2854+105_2854+106dup , LRG_778t1:c.2854+105_2854+106dup	NP_000129.3:n.2854+105_2854+106dup
NM_000138.5:c.2854+105_2854+106dup MANE Select	NP_000129.3:n.2854+105_2854+106dup