Canonical Allele Identifier: CA16043002
Gene: FBN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372834
dbSNP Id: rs1057518012

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425387_48425390del , CM000677.2:g.48425387_48425390del GRCh38
NC_000015.9:g.48717584_48717587del , CM000677.1:g.48717584_48717587del GRCh37
NC_000015.8:g.46504876_46504879del NCBI36
NG_008805.2:g.225399_225402del , LRG_778:g.225399_225402del

Transcript Alleles

HGVS Amino-acid change
NM_000138.4:c.7432_7435del , LRG_778t1:c.7432_7435del NP_000129.3:p.Glu2478MetfsTer?
ENST00000316623.9:c.7432_7435del ENSP00000325527.5:p.Glu2478MetfsTer?
ENST00000559133.5:n.2801_2804del