Canonical Allele Identifier: CA2499222979

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1299644
• ClinVar RCV Id: RCV001730117
• dbSNP Id: rs2141272337

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467995_48467996insACAA , CM000677.2:g.48467995_48467996insACAA	GRCh38
NC_000015.9:g.48760192_48760193insACAA , CM000677.1:g.48760192_48760193insACAA	GRCh37
NC_000015.8:g.46547484_46547485insACAA	NCBI36
NG_008805.2:g.182794_182795insTGTT , LRG_778:g.182794_182795insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4690_4691insTGTT	ENSP00000453958.2:p.Cys1564LeufsTer6
ENST00000674301.2:c.4690_4691insTGTT	ENSP00000501333.2:p.Cys1564LeufsTer6
ENST00000684448.1:n.3364_3365insTGTT
ENST00000316623.10:c.4690_4691insTGTT MANE Select	ENSP00000325527.5:p.Cys1564LeufsTer6
ENST00000316623.9:c.4690_4691insTGTT	ENSP00000325527.5:p.Cys1564LeufsTer6
ENST00000537463.6:c.*453_*454insTGTT	ENSP00000440294.2:n.*453_*454insTGTT
NM_000138.4:c.4690_4691insTGTT , LRG_778t1:c.4690_4691insTGTT	NP_000129.3:p.Cys1564LeufsTer6
NM_000138.5:c.4690_4691insTGTT MANE Select	NP_000129.3:p.Cys1564LeufsTer6