Canonical Allele Identifier: CA658824294

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549311
• ClinVar RCV Id: RCV000663826
• dbSNP Id: rs1555395757
• MyVariant Identifiers: chr15:g.48737633dup (hg19) ; chr15:g.48445436dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445436dup , CM000677.2:g.48445436dup	GRCh38
NC_000015.9:g.48737633dup , CM000677.1:g.48737633dup	GRCh37
NC_000015.8:g.46524925dup	NCBI36
NG_008805.2:g.205353dup , LRG_778:g.205353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5857dup	ENSP00000453958.2:p.Ser1953PhefsTer8
ENST00000674301.2:c.5857dup	ENSP00000501333.2:p.Ser1953PhefsTer8
ENST00000684448.1:n.4531dup
ENST00000316623.10:c.5857dup MANE Select	ENSP00000325527.5:p.Ser1953PhefsTer8
ENST00000674301.1:c.856dup	ENSP00000501333.1:p.Ser286PhefsTer8
ENST00000316623.9:c.5857dup	ENSP00000325527.5:p.Ser1953PhefsTer8
ENST00000537463.6:c.*1620dup	ENSP00000440294.2:n.*1620dup
ENST00000559133.5:c.1164dup
NM_000138.4:c.5857dup , LRG_778t1:c.5857dup	NP_000129.3:p.Ser1953PhefsTer8
NM_000138.5:c.5857dup MANE Select	NP_000129.3:p.Ser1953PhefsTer8