Canonical Allele Identifier: CA658824440
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549167
ClinVar RCV Id: RCV000663643
dbSNP Id: rs1555398527
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48487198_48487199delinsCTT , CM000677.2:g.48487198_48487199delinsCTT GRCh38
NC_000015.9:g.48779395_48779396delinsCTT , CM000677.1:g.48779395_48779396delinsCTT GRCh37
NC_000015.8:g.46566687_46566688delinsCTT NCBI36
NG_008805.2:g.163590_163591delinsAAG , LRG_778:g.163590_163591delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3465_3466delinsAAG ENSP00000453958.2:p.Asp1155GlufsTer4
ENST00000674301.2:c.3465_3466delinsAAG ENSP00000501333.2:p.Asp1155GlufsTer4
ENST00000684448.1:n.2139_2140delinsAAG
ENST00000316623.10:c.3465_3466delinsAAG MANE Select ENSP00000325527.5:p.Asp1155GlufsTer4
ENST00000316623.9:c.3465_3466delinsAAG ENSP00000325527.5:p.Asp1155GlufsTer4
ENST00000537463.6:c.637-12549_637-12548delinsAAG ENSP00000440294.2:n.637-12549_637-12548delinsAAG
NM_000138.4:c.3465_3466delinsAAG , LRG_778t1:c.3465_3466delinsAAG NP_000129.3:p.Asp1155GlufsTer4
NM_000138.5:c.3465_3466delinsAAG MANE Select NP_000129.3:p.Asp1155GlufsTer4
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