Canonical Allele Identifier: CA658798344

Gene: FBN1

Linked Data

• ClinVar Variation Id: 520767
• ClinVar RCV Id: RCV000623292
• dbSNP Id: rs1555393647
• MyVariant Identifiers: chr15:g.48704786dup (hg19) ; chr15:g.48412589dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412591dup , CM000677.2:g.48412591dup	GRCh38
NC_000015.9:g.48704788dup , CM000677.1:g.48704788dup	GRCh37
NC_000015.8:g.46492080dup	NCBI36
NG_008805.2:g.238200dup , LRG_778:g.238200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1014dup	ENSP00000453958.2:n.*1014dup
ENST00000674301.2:c.*1719dup	ENSP00000501333.2:n.*1719dup
ENST00000682158.1:n.1587dup
ENST00000682170.1:n.2387dup
ENST00000682767.1:n.1503dup
ENST00000316623.10:c.8206dup MANE Select	ENSP00000325527.5:p.Thr2736AsnfsTer2
ENST00000674301.1:c.3372dup	ENSP00000501333.1:n.3372dup
ENST00000316623.9:c.8206dup	ENSP00000325527.5:p.Thr2736AsnfsTer2
ENST00000559133.5:c.3575dup
ENST00000561429.1:n.461dup
NM_000138.4:c.8206dup , LRG_778t1:c.8206dup	NP_000129.3:p.Thr2736AsnfsTer2
NM_000138.5:c.8206dup MANE Select	NP_000129.3:p.Thr2736AsnfsTer2