Canonical Allele Identifier: CA16619951
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418697
ClinVar RCV Id: RCV000479213
dbSNP Id: rs1064793374
MyVariant Identifiers: chr15:g.48739005del (hg19) chr15:g.48446808del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446808del , CM000677.2:g.48446808del GRCh38
NC_000015.9:g.48739005del , CM000677.1:g.48739005del GRCh37
NC_000015.8:g.46526297del NCBI36
NG_008805.2:g.203981del , LRG_778:g.203981del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5686del ENSP00000453958.2:p.Glu1896LysfsTer?
ENST00000674301.2:c.5686del ENSP00000501333.2:p.Glu1896LysfsTer?
ENST00000684448.1:n.4360del
ENST00000316623.10:c.5686del MANE Select ENSP00000325527.5:p.Glu1896LysfsTer?
ENST00000674301.1:c.685del ENSP00000501333.1:p.Glu229LysfsTer?
ENST00000316623.9:c.5686del ENSP00000325527.5:p.Glu1896LysfsTer?
ENST00000537463.6:c.*1449del ENSP00000440294.2:n.*1449del
ENST00000559133.5:c.993del
NM_000138.4:c.5686del , LRG_778t1:c.5686del NP_000129.3:p.Glu1896LysfsTer?
NM_000138.5:c.5686del MANE Select NP_000129.3:p.Glu1896LysfsTer?
Search 100 bp 5'
Search 100 bp 3'