Canonical Allele Identifier: CA16614418
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406282
ClinVar RCV Id: RCV000465914 RCV001386276
dbSNP Id: rs1060501031
MyVariant Identifiers: chr15:g.48755409del (hg19) chr15:g.48463212del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463212del , CM000677.2:g.48463212del GRCh38
NC_000015.9:g.48755409del , CM000677.1:g.48755409del GRCh37
NC_000015.8:g.46542701del NCBI36
NG_008805.2:g.187577del , LRG_778:g.187577del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5094del ENSP00000453958.2:p.Tyr1699ThrfsTer16
ENST00000674301.2:c.5094del ENSP00000501333.2:p.Tyr1699ThrfsTer16
ENST00000684448.1:n.3768del
ENST00000316623.10:c.5094del MANE Select ENSP00000325527.5:p.Tyr1699ThrfsTer16
ENST00000674301.1:c.93del ENSP00000501333.1:p.Tyr32ThrfsTer16
ENST00000316623.9:c.5094del ENSP00000325527.5:p.Tyr1699ThrfsTer16
ENST00000537463.6:c.*857del ENSP00000440294.2:n.*857del
ENST00000559133.5:c.401del
NM_000138.4:c.5094del , LRG_778t1:c.5094del NP_000129.3:p.Tyr1699ThrfsTer16
NM_000138.5:c.5094del MANE Select NP_000129.3:p.Tyr1699ThrfsTer16
Search 100 bp 5'
Search 100 bp 3'