Canonical Allele Identifier: CA658798366

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519709
• ClinVar RCV Id: RCV002314311
• dbSNP Id: rs1555398272
• MyVariant Identifiers: chr15:g.48776038del (hg19) ; chr15:g.48483841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483841del , CM000677.2:g.48483841del	GRCh38
NC_000015.9:g.48776038del , CM000677.1:g.48776038del	GRCh37
NC_000015.8:g.46563330del	NCBI36
NG_008805.2:g.166948del , LRG_778:g.166948del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3815del	ENSP00000453958.2:p.Ser1272LeufsTer4
ENST00000674301.2:c.3815del	ENSP00000501333.2:p.Ser1272LeufsTer4
ENST00000684448.1:n.2489del
ENST00000316623.10:c.3815del MANE Select	ENSP00000325527.5:p.Ser1272LeufsTer4
ENST00000316623.9:c.3815del	ENSP00000325527.5:p.Ser1272LeufsTer4
ENST00000537463.6:c.637-9191del	ENSP00000440294.2:n.637-9191del
NM_000138.4:c.3815del , LRG_778t1:c.3815del	NP_000129.3:p.Ser1272LeufsTer4
NM_000138.5:c.3815del MANE Select	NP_000129.3:p.Ser1272LeufsTer4