Canonical Allele Identifier: CA2628331911

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428537-C-CTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428544_48428547dup , CM000677.2:g.48428544_48428547dup	GRCh38
NC_000015.9:g.48720741_48720744dup , CM000677.1:g.48720741_48720744dup	GRCh37
NC_000015.8:g.46508033_46508036dup	NCBI36
NG_008805.2:g.222248_222251dup , LRG_778:g.222248_222251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-70_6872-67dup	ENSP00000453958.2:n.6872-70_6872-67dup
ENST00000674301.2:c.*323-70_*323-67dup	ENSP00000501333.2:n.*323-70_*323-67dup
ENST00000682170.1:n.481-70_481-67dup
ENST00000682767.1:n.37_40dup
ENST00000316623.10:c.6872-70_6872-67dup MANE Select	ENSP00000325527.5:n.6872-70_6872-67dup
ENST00000674301.1:c.1976-70_1976-67dup	ENSP00000501333.1:n.1976-70_1976-67dup
ENST00000316623.9:c.6872-70_6872-67dup	ENSP00000325527.5:n.6872-70_6872-67dup
ENST00000559133.5:c.2179-70_2179-67dup
ENST00000560720.1:n.159-70_159-67dup
NM_000138.4:c.6872-70_6872-67dup , LRG_778t1:c.6872-70_6872-67dup	NP_000129.3:n.6872-70_6872-67dup
NM_000138.5:c.6872-70_6872-67dup MANE Select	NP_000129.3:n.6872-70_6872-67dup