Canonical Allele Identifier: CA281824
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36096
ClinVar RCV Id: RCV000029758
dbSNP Id: rs193922220
MyVariant Identifiers: chr15:g.48736763_48736769dupGTATCCA (hg19) chr15:g.48736762_48736763insGTATCCA (hg19) chr15:g.48444566_48444572dupGTATCCA (hg38) chr15:g.48444565_48444566insGTATCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48444567_48444573dup , CM000677.2:g.48444567_48444573dup GRCh38
NC_000015.9:g.48736764_48736770dup , CM000677.1:g.48736764_48736770dup GRCh37
NC_000015.8:g.46524056_46524062dup NCBI36
NG_008805.2:g.206217_206223dup , LRG_778:g.206217_206223dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6006_6012dup ENSP00000453958.2:p.Ser2005TrpfsTer7
ENST00000674301.2:c.6006_6012dup ENSP00000501333.2:p.Ser2005TrpfsTer7
ENST00000684448.1:n.4680_4686dup
ENST00000316623.10:c.6006_6012dup MANE Select ENSP00000325527.5:p.Ser2005TrpfsTer7
ENST00000674301.1:c.1005_1011dup ENSP00000501333.1:p.Ser338TrpfsTer7
ENST00000316623.9:c.6006_6012dup ENSP00000325527.5:p.Ser2005TrpfsTer7
ENST00000537463.6:c.*1769_*1775dup ENSP00000440294.2:n.*1769_*1775dup
ENST00000559133.5:c.1313_1319dup
ENST00000560820.1:n.126_132dup
NM_000138.4:c.6006_6012dup , LRG_778t1:c.6006_6012dup NP_000129.3:p.Ser2005TrpfsTer7
NM_000138.5:c.6006_6012dup MANE Select NP_000129.3:p.Ser2005TrpfsTer7
Search 100 bp 5'
Search 100 bp 3'