Canonical Allele Identifier: CA2837995372

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446706_48446707dup , CM000677.2:g.48446706_48446707dup	GRCh38
NC_000015.9:g.48738903_48738904dup , CM000677.1:g.48738903_48738904dup	GRCh37
NC_000015.8:g.46526195_46526196dup	NCBI36
NG_008805.2:g.204082_204083dup , LRG_778:g.204082_204083dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5787_5788dup	ENSP00000453958.2:p.Asp1930GlufsTer?
ENST00000674301.2:c.5787_5788dup	ENSP00000501333.2:p.Asp1930GlufsTer?
ENST00000684448.1:n.4461_4462dup
ENST00000316623.10:c.5787_5788dup MANE Select	ENSP00000325527.5:p.Asp1930GlufsTer?
ENST00000674301.1:c.786_787dup	ENSP00000501333.1:p.Asp263GlufsTer?
ENST00000316623.9:c.5787_5788dup	ENSP00000325527.5:p.Asp1930GlufsTer?
ENST00000537463.6:c.*1550_*1551dup	ENSP00000440294.2:n.*1550_*1551dup
ENST00000559133.5:c.1094_1095dup
NM_000138.4:c.5787_5788dup , LRG_778t1:c.5787_5788dup	NP_000129.3:p.Asp1930GlufsTer?
NM_000138.5:c.5787_5788dup MANE Select	NP_000129.3:p.Asp1930GlufsTer?