Canonical Allele Identifier: CA2838928389

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48513483dup , CM000677.2:g.48513483dup	GRCh38
NC_000015.9:g.48805680dup , CM000677.1:g.48805680dup	GRCh37
NC_000015.8:g.46592972dup	NCBI36
NG_008805.2:g.137306dup , LRG_778:g.137306dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1588+66dup	ENSP00000453958.2:n.1588+66dup
ENST00000674301.2:c.1588+66dup	ENSP00000501333.2:n.1588+66dup
ENST00000684448.1:n.262+66dup
ENST00000316623.10:c.1588+66dup MANE Select	ENSP00000325527.5:n.1588+66dup
ENST00000316623.9:c.1588+66dup	ENSP00000325527.5:n.1588+66dup
ENST00000537463.6:c.636+24228dup	ENSP00000440294.2:n.636+24228dup
NM_000138.4:c.1588+66dup , LRG_778t1:c.1588+66dup	NP_000129.3:n.1588+66dup
NM_000138.5:c.1588+66dup MANE Select	NP_000129.3:n.1588+66dup