Canonical Allele Identifier: CA16614795
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406323
ClinVar RCV Id: RCV000474077 RCV001382834
dbSNP Id: rs1060501059
MyVariant Identifiers: chr15:g.48726866del (hg19) chr15:g.48434669del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48434669del , CM000677.2:g.48434669del GRCh38
NC_000015.9:g.48726866del , CM000677.1:g.48726866del GRCh37
NC_000015.8:g.46514158del NCBI36
NG_008805.2:g.216120del , LRG_778:g.216120del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6541del ENSP00000453958.2:p.Cys2181AlafsTer4
ENST00000674301.2:c.6541del ENSP00000501333.2:p.Cys2181AlafsTer4
ENST00000682170.1:n.150del
ENST00000316623.10:c.6541del MANE Select ENSP00000325527.5:p.Cys2181AlafsTer4
ENST00000674301.1:c.1540del ENSP00000501333.1:p.Cys514AlafsTer4
ENST00000316623.9:c.6541del ENSP00000325527.5:p.Cys2181AlafsTer4
ENST00000537463.6:c.*2304del ENSP00000440294.2:n.*2304del
ENST00000559133.5:c.1848del
NM_000138.4:c.6541del , LRG_778t1:c.6541del NP_000129.3:p.Cys2181AlafsTer4
NM_000138.5:c.6541del MANE Select NP_000129.3:p.Cys2181AlafsTer4
Search 100 bp 5'
Search 100 bp 3'