Canonical Allele Identifier: CA16614638
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406362
ClinVar RCV Id: RCV000476231 RCV001386277
dbSNP Id: rs1060501089
MyVariant Identifiers: chr15:g.48737666_48737667del (hg19) chr15:g.48445469_48445470del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445470_48445471del , CM000677.2:g.48445470_48445471del GRCh38
NC_000015.9:g.48737667_48737668del , CM000677.1:g.48737667_48737668del GRCh37
NC_000015.8:g.46524959_46524960del NCBI36
NG_008805.2:g.205319_205320del , LRG_778:g.205319_205320del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5823_5824del ENSP00000453958.2:p.Cys1942GlnfsTer7
ENST00000674301.2:c.5823_5824del ENSP00000501333.2:p.Cys1942GlnfsTer7
ENST00000684448.1:n.4497_4498del
ENST00000316623.10:c.5823_5824del MANE Select ENSP00000325527.5:p.Cys1942GlnfsTer7
ENST00000674301.1:c.822_823del ENSP00000501333.1:p.Cys275GlnfsTer7
ENST00000316623.9:c.5823_5824del ENSP00000325527.5:p.Cys1942GlnfsTer7
ENST00000537463.6:c.*1586_*1587del ENSP00000440294.2:n.*1586_*1587del
ENST00000559133.5:c.1130_1131del
NM_000138.4:c.5823_5824del , LRG_778t1:c.5823_5824del NP_000129.3:p.Cys1942GlnfsTer7
NM_000138.5:c.5823_5824del MANE Select NP_000129.3:p.Cys1942GlnfsTer7
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