Canonical Allele Identifier: CA2580574311

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503799_48503802dup , CM000677.2:g.48503799_48503802dup	GRCh38
NC_000015.9:g.48795996_48795999dup , CM000677.1:g.48795996_48795999dup	GRCh37
NC_000015.8:g.46583288_46583291dup	NCBI36
NG_008805.2:g.146988_146991dup , LRG_778:g.146988_146991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2099_2102dup	ENSP00000453958.2:p.Gln702CysfsTer23
ENST00000674301.2:c.2099_2102dup	ENSP00000501333.2:p.Gln702CysfsTer23
ENST00000684448.1:n.773_776dup
ENST00000316623.10:c.2099_2102dup MANE Select	ENSP00000325527.5:p.Gln702CysfsTer23
ENST00000316623.9:c.2099_2102dup	ENSP00000325527.5:p.Gln702CysfsTer23
ENST00000537463.6:c.637-29151_637-29148dup	ENSP00000440294.2:n.637-29151_637-29148dup
NM_000138.4:c.2099_2102dup , LRG_778t1:c.2099_2102dup	NP_000129.3:p.Gln702CysfsTer23
NM_000138.5:c.2099_2102dup MANE Select	NP_000129.3:p.Gln702CysfsTer23