Canonical Allele Identifier: CA2573150975

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1358410
• ClinVar RCV Id: RCV001894211
• dbSNP Id: rs2141234945

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48432869_48432878del , CM000677.2:g.48432869_48432878del	GRCh38
NC_000015.9:g.48725066_48725075del , CM000677.1:g.48725066_48725075del	GRCh37
NC_000015.8:g.46512358_46512367del	NCBI36
NG_008805.2:g.217912_217921del , LRG_778:g.217912_217921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6728_6737del	ENSP00000453958.2:p.Arg2243LysfsTer?
ENST00000674301.2:c.*179_*188del	ENSP00000501333.2:n.*179_*188del
ENST00000682170.1:n.337_346del
ENST00000316623.10:c.6728_6737del MANE Select	ENSP00000325527.5:p.Arg2243LysfsTer?
ENST00000674301.1:c.1832_1841del	ENSP00000501333.1:n.1832_1841del
ENST00000316623.9:c.6728_6737del	ENSP00000325527.5:p.Arg2243LysfsTer?
ENST00000537463.6:c.*2491_*2500del	ENSP00000440294.2:n.*2491_*2500del
ENST00000559133.5:c.2035_2044del
ENST00000560720.1:n.15_24del
NM_000138.4:c.6728_6737del , LRG_778t1:c.6728_6737del	NP_000129.3:p.Arg2243LysfsTer?
NM_000138.5:c.6728_6737del MANE Select	NP_000129.3:p.Arg2243LysfsTer?