Canonical Allele Identifier: CA658798346

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519784
• ClinVar RCV Id: RCV002313270
• dbSNP Id: rs1555393823

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415535_48415536delinsA , CM000677.2:g.48415535_48415536delinsA	GRCh38
NC_000015.9:g.48707732_48707733delinsA , CM000677.1:g.48707732_48707733delinsA	GRCh37
NC_000015.8:g.46495024_46495025delinsA	NCBI36
NG_008805.2:g.235253_235254delinsT , LRG_778:g.235253_235254delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859_*859+1delinsT
ENST00000674301.2:c.*1564_*1564+1delinsT
ENST00000682158.1:n.1432_1432+1delinsT
ENST00000682170.1:n.2232_2232+1delinsT
ENST00000682767.1:n.1348_1348+1delinsT
ENST00000316623.10:c.8051_8051+1delinsT
ENST00000674301.1:c.3217_3217+1delinsT
ENST00000316623.9:c.8051_8051+1delinsT
ENST00000559133.5:c.3420_3420+1delinsT
ENST00000561429.1:n.306_306+1delinsT
NM_000138.4:c.8051_8051+1delinsT , LRG_778t1:c.8051_8051+1delinsT
NM_000138.5:c.8051_8051+1delinsT