Canonical Allele Identifier: CA2740096708
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951657
ClinVar RCV Id: RCV003812344
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485391_48485395del , CM000677.2:g.48485391_48485395del GRCh38
NC_000015.9:g.48777588_48777592del , CM000677.1:g.48777588_48777592del GRCh37
NC_000015.8:g.46564880_46564884del NCBI36
NG_008805.2:g.165396_165400del , LRG_778:g.165396_165400del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3693_3697del ENSP00000453958.2:p.Asp1232GlufsTer8
ENST00000674301.2:c.3693_3697del ENSP00000501333.2:p.Asp1232GlufsTer8
ENST00000684448.1:n.2367_2371del
ENST00000316623.10:c.3693_3697del MANE Select ENSP00000325527.5:p.Asp1232GlufsTer8
ENST00000316623.9:c.3693_3697del ENSP00000325527.5:p.Asp1232GlufsTer8
ENST00000537463.6:c.637-10743_637-10739del ENSP00000440294.2:n.637-10743_637-10739del
NM_000138.4:c.3693_3697del , LRG_778t1:c.3693_3697del NP_000129.3:p.Asp1232GlufsTer8
NM_000138.5:c.3693_3697del MANE Select NP_000129.3:p.Asp1232GlufsTer8
Search 100 bp 5'
Search 100 bp 3'