Canonical Allele Identifier: CA2580089575
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2430311
ClinVar RCV Id: RCV003128489

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48613007del , CM000677.2:g.48613007del GRCh38
NC_000015.9:g.48905204del , CM000677.1:g.48905204del GRCh37
NC_000015.8:g.46692496del NCBI36
NG_008805.2:g.37783del , LRG_778:g.37783del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.247+4del ENSP00000453958.2:n.247+4del
ENST00000674301.2:c.247+4del ENSP00000501333.2:n.247+4del
ENST00000316623.10:c.247+4del MANE Select ENSP00000325527.5:n.247+4del
ENST00000316623.9:c.247+4del ENSP00000325527.5:n.247+4del
ENST00000537463.6:c.247+4del ENSP00000440294.2:n.247+4del
NM_000138.4:c.247+4del , LRG_778t1:c.247+4del NP_000129.3:n.247+4del
NM_000138.5:c.247+4del MANE Select NP_000129.3:n.247+4del