Canonical Allele Identifier: CA656135159

Gene: FBN1

Linked Data

• COSMIC: COSN22772111

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409378dup , CM000677.2:g.48409378dup	GRCh38
NC_000015.9:g.48701575dup , CM000677.1:g.48701575dup	GRCh37
NC_000015.8:g.46488867dup	NCBI36
NG_008805.2:g.241411dup , LRG_778:g.241411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4409dup
ENST00000682767.1:n.3525dup
ENST00000316623.10:c.*1612dup MANE Select	ENSP00000325527.5:n.*1612dup
ENST00000316623.9:c.*1612dup	ENSP00000325527.5:n.*1612dup
NM_000138.4:c.*1612dup , LRG_778t1:c.*1612dup	NP_000129.3:n.*1612dup
NM_000138.5:c.*1612dup MANE Select	NP_000129.3:n.*1612dup