Canonical Allele Identifier: CA658824323
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547317
ClinVar RCV Id: RCV000659537 RCV001861711
dbSNP Id: rs1555397713
MyVariant Identifiers: chr15:g.48766756del (hg19) chr15:g.48474559del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474561del , CM000677.2:g.48474561del GRCh38
NC_000015.9:g.48766758del , CM000677.1:g.48766758del GRCh37
NC_000015.8:g.46554050del NCBI36
NG_008805.2:g.176230del , LRG_778:g.176230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4056del ENSP00000453958.2:p.Trp1354GlyfsTer?
ENST00000674301.2:c.4056del ENSP00000501333.2:p.Trp1354GlyfsTer?
ENST00000684448.1:n.2730del
ENST00000316623.10:c.4056del MANE Select ENSP00000325527.5:p.Trp1354GlyfsTer?
ENST00000316623.9:c.4056del ENSP00000325527.5:p.Trp1354GlyfsTer?
ENST00000537463.6:c.728del ENSP00000440294.2:p.Pro243ArgfsTer8
NM_000138.4:c.4056del , LRG_778t1:c.4056del NP_000129.3:p.Trp1354GlyfsTer?
NM_000138.5:c.4056del MANE Select NP_000129.3:p.Trp1354GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'