Canonical Allele Identifier: CA16614478
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406336
ClinVar RCV Id: RCV000464500 RCV001378199
dbSNP Id: rs1060501065
MyVariant Identifiers: chr15:g.48704905del (hg19) chr15:g.48412708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412710del , CM000677.2:g.48412710del GRCh38
NC_000015.9:g.48704907del , CM000677.1:g.48704907del GRCh37
NC_000015.8:g.46492199del NCBI36
NG_008805.2:g.238081del , LRG_778:g.238081del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*895del ENSP00000453958.2:n.*895del
ENST00000674301.2:c.*1600del ENSP00000501333.2:n.*1600del
ENST00000682158.1:n.1468del
ENST00000682170.1:n.2268del
ENST00000682767.1:n.1384del
ENST00000316623.10:c.8087del MANE Select ENSP00000325527.5:p.Asn2696ThrfsTer?
ENST00000674301.1:c.3253del ENSP00000501333.1:n.3253del
ENST00000316623.9:c.8087del ENSP00000325527.5:p.Asn2696ThrfsTer?
ENST00000559133.5:c.3456del
ENST00000561429.1:n.342del
NM_000138.4:c.8087del , LRG_778t1:c.8087del NP_000129.3:p.Asn2696ThrfsTer?
NM_000138.5:c.8087del MANE Select NP_000129.3:p.Asn2696ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'