Canonical Allele Identifier: CA16043002
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372834
ClinVar RCV Id: RCV000414521 RCV000587330
dbSNP Id: rs1057518012
MyVariant Identifiers: chr15:g.48717584_48717587del (hg19) chr15:g.48425387_48425390del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48425387_48425390del , CM000677.2:g.48425387_48425390del GRCh38
NC_000015.9:g.48717584_48717587del , CM000677.1:g.48717584_48717587del GRCh37
NC_000015.8:g.46504876_46504879del NCBI36
NG_008805.2:g.225399_225402del , LRG_778:g.225399_225402del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*240_*243del ENSP00000453958.2:n.*240_*243del
ENST00000674301.2:c.*945_*948del ENSP00000501333.2:n.*945_*948del
ENST00000682170.1:n.1613_1616del
ENST00000682767.1:n.729_732del
ENST00000316623.10:c.7432_7435del MANE Select ENSP00000325527.5:p.Glu2478MetfsTer?
ENST00000674301.1:c.2598_2601del ENSP00000501333.1:n.2598_2601del
ENST00000316623.9:c.7432_7435del ENSP00000325527.5:p.Glu2478MetfsTer?
ENST00000559133.5:c.2801_2804del
NM_000138.4:c.7432_7435del , LRG_778t1:c.7432_7435del NP_000129.3:p.Glu2478MetfsTer?
NM_000138.5:c.7432_7435del MANE Select NP_000129.3:p.Glu2478MetfsTer?
Search 100 bp 5'
Search 100 bp 3'