Canonical Allele Identifier: CA658824378

Gene: FBN1

Linked Data

• ClinVar Variation Id: 547348
• ClinVar RCV Id: RCV000659586
• dbSNP Id: rs1555393565
• MyVariant Identifiers: chr15:g.48703550_48703551dup (hg19) ; chr15:g.48411353_48411354dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411355_48411356dup , CM000677.2:g.48411355_48411356dup	GRCh38
NC_000015.9:g.48703552_48703553dup , CM000677.1:g.48703552_48703553dup	GRCh37
NC_000015.8:g.46490844_46490845dup	NCBI36
NG_008805.2:g.239435_239436dup , LRG_778:g.239435_239436dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1060_*1061dup	ENSP00000453958.2:n.*1060_*1061dup
ENST00000674301.2:c.*1765_*1766dup	ENSP00000501333.2:n.*1765_*1766dup
ENST00000682158.1:n.1633_1634dup
ENST00000682170.1:n.2433_2434dup
ENST00000682767.1:n.1549_1550dup
ENST00000316623.10:c.8252_8253dup MANE Select	ENSP00000325527.5:p.Ser2752Ter
ENST00000674301.1:c.3418_3419dup	ENSP00000501333.1:n.3418_3419dup
ENST00000316623.9:c.8252_8253dup	ENSP00000325527.5:p.Ser2752Ter
ENST00000559133.5:c.3621_3622dup
ENST00000561429.1:n.507_508dup
NM_000138.4:c.8252_8253dup , LRG_778t1:c.8252_8253dup	NP_000129.3:p.Ser2752Ter
NM_000138.5:c.8252_8253dup MANE Select	NP_000129.3:p.Ser2752Ter