Canonical Allele Identifier: CA658683885
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495604
ClinVar RCV Id: RCV000587653
dbSNP Id: rs1555397707
MyVariant Identifiers: chr15:g.48766752del (hg19) chr15:g.48474555del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474555del , CM000677.2:g.48474555del GRCh38
NC_000015.9:g.48766752del , CM000677.1:g.48766752del GRCh37
NC_000015.8:g.46554044del NCBI36
NG_008805.2:g.176234del , LRG_778:g.176234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4060del ENSP00000453958.2:p.Trp1354GlyfsTer?
ENST00000674301.2:c.4060del ENSP00000501333.2:p.Trp1354GlyfsTer?
ENST00000684448.1:n.2734del
ENST00000316623.10:c.4060del MANE Select ENSP00000325527.5:p.Trp1354GlyfsTer?
ENST00000316623.9:c.4060del ENSP00000325527.5:p.Trp1354GlyfsTer?
ENST00000537463.6:c.732del ENSP00000440294.2:p.Gly245AspfsTer6
NM_000138.4:c.4060del , LRG_778t1:c.4060del NP_000129.3:p.Trp1354GlyfsTer?
NM_000138.5:c.4060del MANE Select NP_000129.3:p.Trp1354GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'