Canonical Allele Identifier: CA891844497

Gene: FBN1

Linked Data

• ClinVar Variation Id: 578961
• ClinVar RCV Id: RCV000702122 ; RCV002332485 ; RCV001509494 ; RCV001193501
• dbSNP Id: rs1566905976
• MyVariant Identifiers: chr15:g.48764857_48764858del (hg19) ; chr15:g.48472660_48472661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472662_48472663del , CM000677.2:g.48472662_48472663del	GRCh38
NC_000015.9:g.48764859_48764860del , CM000677.1:g.48764859_48764860del	GRCh37
NC_000015.8:g.46552151_46552152del	NCBI36
NG_008805.2:g.178128_178129del , LRG_778:g.178128_178129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4226_4227del	ENSP00000453958.2:p.Ser1409Ter
ENST00000674301.2:c.4226_4227del	ENSP00000501333.2:p.Ser1409Ter
ENST00000683268.1:n.193_194del
ENST00000684448.1:n.2900_2901del
ENST00000316623.10:c.4226_4227del MANE Select	ENSP00000325527.5:p.Ser1409Ter
ENST00000316623.9:c.4226_4227del	ENSP00000325527.5:p.Ser1409Ter
ENST00000537463.6:c.898_899del	ENSP00000440294.2:p.Leu300GlufsTer?
NM_000138.4:c.4226_4227del , LRG_778t1:c.4226_4227del	NP_000129.3:p.Ser1409Ter
NM_000138.5:c.4226_4227del MANE Select	NP_000129.3:p.Ser1409Ter