Canonical Allele Identifier: CA16614813
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406358
ClinVar RCV Id: RCV000468057 RCV001386444
dbSNP Id: rs1555397743
MyVariant Identifiers: chr15:g.48766839dupC (hg19) chr15:g.48766838_48766839insC (hg19) chr15:g.48474642dupC (hg38) chr15:g.48474641_48474642insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474642dup , CM000677.2:g.48474642dup GRCh38
NC_000015.9:g.48766839dup , CM000677.1:g.48766839dup GRCh37
NC_000015.8:g.46554131dup NCBI36
NG_008805.2:g.176147dup , LRG_778:g.176147dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3973dup ENSP00000453958.2:p.Glu1325GlyfsTer3
ENST00000674301.2:c.3973dup ENSP00000501333.2:p.Glu1325GlyfsTer3
ENST00000684448.1:n.2647dup
ENST00000316623.10:c.3973dup MANE Select ENSP00000325527.5:p.Glu1325GlyfsTer3
ENST00000316623.9:c.3973dup ENSP00000325527.5:p.Glu1325GlyfsTer3
ENST00000537463.6:c.645dup ENSP00000440294.2:p.Asn216GlufsTer?
NM_000138.4:c.3973dup , LRG_778t1:c.3973dup NP_000129.3:p.Glu1325GlyfsTer3
NM_000138.5:c.3973dup MANE Select NP_000129.3:p.Glu1325GlyfsTer3
Search 100 bp 5'
Search 100 bp 3'