Canonical Allele Identifier: CA353693
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222625
ClinVar RCV Id: RCV001853302
dbSNP Id: rs869025426
MyVariant Identifiers: chr15:g.48756145dupA (hg19) chr15:g.48756144_48756145insA (hg19) chr15:g.48463948dupA (hg38) chr15:g.48463947_48463948insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48463948dup , CM000677.2:g.48463948dup GRCh38
NC_000015.9:g.48756145dup , CM000677.1:g.48756145dup GRCh37
NC_000015.8:g.46543437dup NCBI36
NG_008805.2:g.186841dup , LRG_778:g.186841dup

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5016dup ENSP00000453958.2:p.Ile1673TyrfsTer14
ENST00000674301.2:c.5016dup ENSP00000501333.2:p.Ile1673TyrfsTer14
ENST00000684448.1:n.3690dup
ENST00000316623.10:c.5016dup MANE Select ENSP00000325527.5:p.Ile1673TyrfsTer14
ENST00000674301.1:c.15dup ENSP00000501333.1:p.Ile6TyrfsTer14
ENST00000316623.9:c.5016dup ENSP00000325527.5:p.Ile1673TyrfsTer14
ENST00000537463.6:c.*779dup ENSP00000440294.2:n.*779dup
ENST00000559133.5:c.323dup
NM_000138.4:c.5016dup , LRG_778t1:c.5016dup NP_000129.3:p.Ile1673TyrfsTer14
NM_000138.5:c.5016dup MANE Select NP_000129.3:p.Ile1673TyrfsTer14
Search 100 bp 5'
Search 100 bp 3'