Canonical Allele Identifier: CA658824319
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549221
ClinVar RCV Id: RCV000663714
dbSNP Id: rs1555397537

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48472588del , CM000677.2:g.48472588del GRCh38
NC_000015.9:g.48764785del , CM000677.1:g.48764785del GRCh37
NC_000015.8:g.46552077del NCBI36
NG_008805.2:g.178203del , LRG_778:g.178203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4301del ENSP00000453958.2:p.Gly1434AlafsTer?
ENST00000674301.2:c.4301del ENSP00000501333.2:p.Gly1434AlafsTer?
ENST00000683268.1:n.268del
ENST00000684448.1:n.2975del
ENST00000316623.10:c.4301del MANE Select ENSP00000325527.5:p.Gly1434AlafsTer?
ENST00000316623.9:c.4301del ENSP00000325527.5:p.Gly1434AlafsTer?
ENST00000537463.6:c.*64del ENSP00000440294.2:n.*64del
NM_000138.4:c.4301del , LRG_778t1:c.4301del NP_000129.3:p.Gly1434AlafsTer?
NM_000138.5:c.4301del MANE Select NP_000129.3:p.Gly1434AlafsTer?