Canonical Allele Identifier: CA10603348
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280058
ClinVar RCV Id: RCV000388666
dbSNP Id: rs886041349

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503878_48503881del , CM000677.2:g.48503878_48503881del GRCh38
NC_000015.9:g.48796075_48796078del , CM000677.1:g.48796075_48796078del GRCh37
NC_000015.8:g.46583367_46583370del NCBI36
NG_008805.2:g.146912_146915del , LRG_778:g.146912_146915del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2023_2026del ENSP00000453958.2:p.Phe675ValfsTer?
ENST00000674301.2:c.2023_2026del ENSP00000501333.2:p.Phe675ValfsTer?
ENST00000684448.1:n.697_700del
ENST00000316623.10:c.2023_2026del MANE Select ENSP00000325527.5:p.Phe675ValfsTer?
ENST00000316623.9:c.2023_2026del ENSP00000325527.5:p.Phe675ValfsTer?
ENST00000537463.6:c.637-29227_637-29224del ENSP00000440294.2:n.637-29227_637-29224de...
NM_000138.4:c.2023_2026del , LRG_778t1:c.2023_2026del NP_000129.3:p.Phe675ValfsTer?
NM_000138.5:c.2023_2026del MANE Select NP_000129.3:p.Phe675ValfsTer?