Canonical Allele Identifier: CA658798372

Gene: FBN1

Linked Data

• ClinVar Variation Id: 520500
• ClinVar RCV Id: RCV000624567
• dbSNP Id: rs1555398825
• MyVariant Identifiers: chr15:g.48782209_48782210insG (hg19) ; chr15:g.48490012_48490013insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490014dup , CM000677.2:g.48490014dup	GRCh38
NC_000015.9:g.48782211dup , CM000677.1:g.48782211dup	GRCh37
NC_000015.8:g.46569503dup	NCBI36
NG_008805.2:g.160776dup , LRG_778:g.160776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2920dup	ENSP00000453958.2:p.Arg974ProfsTer18
ENST00000674301.2:c.2920dup	ENSP00000501333.2:p.Arg974ProfsTer18
ENST00000684448.1:n.1594dup
ENST00000316623.10:c.2920dup MANE Select	ENSP00000325527.5:p.Arg974ProfsTer18
ENST00000316623.9:c.2920dup	ENSP00000325527.5:p.Arg974ProfsTer18
ENST00000537463.6:c.637-15363dup	ENSP00000440294.2:n.637-15363dup
NM_000138.4:c.2920dup , LRG_778t1:c.2920dup	NP_000129.3:p.Arg974ProfsTer18
NM_000138.5:c.2920dup MANE Select	NP_000129.3:p.Arg974ProfsTer18