Canonical Allele Identifier: CA016147

Gene: FBN1

Linked Data

• ClinVar Variation Id: 177768
• ClinVar RCV Id: RCV000154386
• dbSNP Id: rs727504315
• MyVariant Identifiers: chr15:g.48737602del (hg19) ; chr15:g.48445405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445405del , CM000677.2:g.48445405del	GRCh38
NC_000015.9:g.48737602del , CM000677.1:g.48737602del	GRCh37
NC_000015.8:g.46524894del	NCBI36
NG_008805.2:g.205384del , LRG_778:g.205384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5888del	ENSP00000453958.2:p.Glu1963GlyfsTer17
ENST00000674301.2:c.5888del	ENSP00000501333.2:p.Glu1963GlyfsTer17
ENST00000684448.1:n.4562del
ENST00000316623.10:c.5888del MANE Select	ENSP00000325527.5:p.Glu1963GlyfsTer17
ENST00000674301.1:c.887del	ENSP00000501333.1:p.Glu296GlyfsTer17
ENST00000316623.9:c.5888del	ENSP00000325527.5:p.Glu1963GlyfsTer17
ENST00000537463.6:c.*1651del	ENSP00000440294.2:n.*1651del
ENST00000559133.5:c.1195del
ENST00000560820.1:n.8del
NM_000138.4:c.5888del , LRG_778t1:c.5888del	NP_000129.3:p.Glu1963GlyfsTer17
NM_000138.5:c.5888del MANE Select	NP_000129.3:p.Glu1963GlyfsTer17