Canonical Allele Identifier: CA645293891
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426761
ClinVar RCV Id: RCV000489618
dbSNP Id: rs1085307786
MyVariant Identifiers: chr15:g.48780389del (hg19) chr15:g.48488192del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48488192del , CM000677.2:g.48488192del GRCh38
NC_000015.9:g.48780389del , CM000677.1:g.48780389del GRCh37
NC_000015.8:g.46567681del NCBI36
NG_008805.2:g.162597del , LRG_778:g.162597del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3258del ENSP00000453958.2:p.Cys1086TrpfsTer2
ENST00000674301.2:c.3258del ENSP00000501333.2:p.Cys1086TrpfsTer2
ENST00000684448.1:n.1932del
ENST00000316623.10:c.3258del MANE Select ENSP00000325527.5:p.Cys1086TrpfsTer2
ENST00000316623.9:c.3258del ENSP00000325527.5:p.Cys1086TrpfsTer2
ENST00000537463.6:c.637-13542del ENSP00000440294.2:n.637-13542del
NM_000138.4:c.3258del , LRG_778t1:c.3258del NP_000129.3:p.Cys1086TrpfsTer2
NM_000138.5:c.3258del MANE Select NP_000129.3:p.Cys1086TrpfsTer2
Search 100 bp 5'
Search 100 bp 3'