Canonical Allele Identifier: CA2695220593

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468019_48468020dup , CM000677.2:g.48468019_48468020dup	GRCh38
NC_000015.9:g.48760216_48760217dup , CM000677.1:g.48760216_48760217dup	GRCh37
NC_000015.8:g.46547508_46547509dup	NCBI36
NG_008805.2:g.182769_182770dup , LRG_778:g.182769_182770dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4665_4666dup	ENSP00000453958.2:p.Gly1556ValfsTer26
ENST00000674301.2:c.4665_4666dup	ENSP00000501333.2:p.Gly1556ValfsTer26
ENST00000684448.1:n.3339_3340dup
ENST00000316623.10:c.4665_4666dup MANE Select	ENSP00000325527.5:p.Gly1556ValfsTer26
ENST00000316623.9:c.4665_4666dup	ENSP00000325527.5:p.Gly1556ValfsTer26
ENST00000537463.6:c.*428_*429dup	ENSP00000440294.2:n.*428_*429dup
NM_000138.4:c.4665_4666dup , LRG_778t1:c.4665_4666dup	NP_000129.3:p.Gly1556ValfsTer26
NM_000138.5:c.4665_4666dup MANE Select	NP_000129.3:p.Gly1556ValfsTer26