Canonical Allele Identifier: CA915946643

Gene: FBN1

Linked Data

• ClinVar Variation Id: 647136
• ClinVar RCV Id: RCV000801568
• dbSNP Id: rs1597522415

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432908del , CM000677.2:g.48432908del	GRCh38
NC_000015.9:g.48725105del , CM000677.1:g.48725105del	GRCh37
NC_000015.8:g.46512397del	NCBI36
NG_008805.2:g.217883del , LRG_778:g.217883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6699del	ENSP00000453958.2:p.Val2234TrpfsTer?
ENST00000674301.2:c.*150del	ENSP00000501333.2:n.*150del
ENST00000682170.1:n.308del
ENST00000316623.10:c.6699del MANE Select	ENSP00000325527.5:p.Val2234TrpfsTer?
ENST00000674301.1:c.1803del	ENSP00000501333.1:n.1803del
ENST00000316623.9:c.6699del	ENSP00000325527.5:p.Val2234TrpfsTer?
ENST00000537463.6:c.*2462del	ENSP00000440294.2:n.*2462del
ENST00000559133.5:c.2006del
NM_000138.4:c.6699del , LRG_778t1:c.6699del	NP_000129.3:p.Val2234TrpfsTer?
NM_000138.5:c.6699del MANE Select	NP_000129.3:p.Val2234TrpfsTer?