Canonical Allele Identifier: CA16614790
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406324
ClinVar RCV Id: RCV000460769
dbSNP Id: rs1060501060
MyVariant Identifiers: chr15:g.48717598del (hg19) chr15:g.48425401del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425401del , CM000677.2:g.48425401del GRCh38
NC_000015.9:g.48717598del , CM000677.1:g.48717598del GRCh37
NC_000015.8:g.46504890del NCBI36
NG_008805.2:g.225388del , LRG_778:g.225388del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*229del ENSP00000453958.2:n.*229del
ENST00000674301.2:c.*934del ENSP00000501333.2:n.*934del
ENST00000682170.1:n.1602del
ENST00000682767.1:n.718del
ENST00000316623.10:c.7421del MANE Select ENSP00000325527.5:p.Tyr2474SerfsTer?
ENST00000674301.1:c.2587del ENSP00000501333.1:n.2587del
ENST00000316623.9:c.7421del ENSP00000325527.5:p.Tyr2474SerfsTer?
ENST00000559133.5:c.2790del
NM_000138.4:c.7421del , LRG_778t1:c.7421del NP_000129.3:p.Tyr2474SerfsTer?
NM_000138.5:c.7421del MANE Select NP_000129.3:p.Tyr2474SerfsTer?
Search 100 bp 5'
Search 100 bp 3'