Canonical Allele Identifier: CA2841790666

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446768dup , CM000677.2:g.48446768dup	GRCh38
NC_000015.9:g.48738965dup , CM000677.1:g.48738965dup	GRCh37
NC_000015.8:g.46526257dup	NCBI36
NG_008805.2:g.204022dup , LRG_778:g.204022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5727dup	ENSP00000453958.2:p.Gly1910TrpfsTer18
ENST00000674301.2:c.5727dup	ENSP00000501333.2:p.Gly1910TrpfsTer18
ENST00000684448.1:n.4401dup
ENST00000316623.10:c.5727dup MANE Select	ENSP00000325527.5:p.Gly1910TrpfsTer18
ENST00000674301.1:c.726dup	ENSP00000501333.1:p.Gly243TrpfsTer18
ENST00000316623.9:c.5727dup	ENSP00000325527.5:p.Gly1910TrpfsTer18
ENST00000537463.6:c.*1490dup	ENSP00000440294.2:n.*1490dup
ENST00000559133.5:c.1034dup
NM_000138.4:c.5727dup , LRG_778t1:c.5727dup	NP_000129.3:p.Gly1910TrpfsTer18
NM_000138.5:c.5727dup MANE Select	NP_000129.3:p.Gly1910TrpfsTer18