Canonical Allele Identifier: CA658824315
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547323
ClinVar RCV Id: RCV000659546
dbSNP Id: rs1555397197
MyVariant Identifiers: chr15:g.48760611_48760612del (hg19) chr15:g.48468414_48468415del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468417_48468418del , CM000677.2:g.48468417_48468418del GRCh38
NC_000015.9:g.48760614_48760615del , CM000677.1:g.48760614_48760615del GRCh37
NC_000015.8:g.46547906_46547907del NCBI36
NG_008805.2:g.182374_182375del , LRG_778:g.182374_182375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4579_4580del ENSP00000453958.2:p.Val1527Ter
ENST00000674301.2:c.4579_4580del ENSP00000501333.2:p.Val1527Ter
ENST00000684448.1:n.3253_3254del
ENST00000316623.10:c.4579_4580del MANE Select ENSP00000325527.5:p.Val1527Ter
ENST00000316623.9:c.4579_4580del ENSP00000325527.5:p.Val1527Ter
ENST00000537463.6:c.*342_*343del ENSP00000440294.2:n.*342_*343del
NM_000138.4:c.4579_4580del , LRG_778t1:c.4579_4580del NP_000129.3:p.Val1527Ter
NM_000138.5:c.4579_4580del MANE Select NP_000129.3:p.Val1527Ter
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