Canonical Allele Identifier: CA658824460

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549099
• ClinVar RCV Id: RCV000663563
• dbSNP Id: rs1555399146
• MyVariant Identifiers: chr15:g.48787330_48787340del (hg19) ; chr15:g.48495133_48495143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48495133_48495143del , CM000677.2:g.48495133_48495143del	GRCh38
NC_000015.9:g.48787330_48787340del , CM000677.1:g.48787330_48787340del	GRCh37
NC_000015.8:g.46574622_46574632del	NCBI36
NG_008805.2:g.155646_155656del , LRG_778:g.155646_155656del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2657_2667del	ENSP00000453958.2:p.Pro886LeufsTer4
ENST00000674301.2:c.2657_2667del	ENSP00000501333.2:p.Pro886LeufsTer4
ENST00000684448.1:n.1331_1341del
ENST00000316623.10:c.2657_2667del MANE Select	ENSP00000325527.5:p.Pro886LeufsTer4
ENST00000316623.9:c.2657_2667del	ENSP00000325527.5:p.Pro886LeufsTer4
ENST00000537463.6:c.637-20493_637-20483del	ENSP00000440294.2:n.637-20493_637-20483de...
NM_000138.4:c.2657_2667del , LRG_778t1:c.2657_2667del	NP_000129.3:p.Pro886LeufsTer4
NM_000138.5:c.2657_2667del MANE Select	NP_000129.3:p.Pro886LeufsTer4