Canonical Allele Identifier: CA2575716935

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428396_48428397dup , CM000677.2:g.48428396_48428397dup	GRCh38
NC_000015.9:g.48720593_48720594dup , CM000677.1:g.48720593_48720594dup	GRCh37
NC_000015.8:g.46507885_46507886dup	NCBI36
NG_008805.2:g.222394_222395dup , LRG_778:g.222394_222395dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6948_6949dup	ENSP00000453958.2:p.Glu2317ValfsTer?
ENST00000674301.2:c.*399_*400dup	ENSP00000501333.2:n.*399_*400dup
ENST00000682170.1:n.557_558dup
ENST00000682767.1:n.183_184dup
ENST00000316623.10:c.6948_6949dup MANE Select	ENSP00000325527.5:p.Glu2317ValfsTer?
ENST00000674301.1:c.2052_2053dup	ENSP00000501333.1:n.2052_2053dup
ENST00000316623.9:c.6948_6949dup	ENSP00000325527.5:p.Glu2317ValfsTer?
ENST00000559133.5:c.2255_2256dup
ENST00000560720.1:n.235_236dup
NM_000138.4:c.6948_6949dup , LRG_778t1:c.6948_6949dup	NP_000129.3:p.Glu2317ValfsTer?
NM_000138.5:c.6948_6949dup MANE Select	NP_000129.3:p.Glu2317ValfsTer?