Canonical Allele Identifier: CA658824435
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549186
ClinVar RCV Id: RCV000663665
dbSNP Id: rs1555398282
MyVariant Identifiers: chr15:g.48776070del (hg19) chr15:g.48483873del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483873del , CM000677.2:g.48483873del GRCh38
NC_000015.9:g.48776070del , CM000677.1:g.48776070del GRCh37
NC_000015.8:g.46563362del NCBI36
NG_008805.2:g.166916del , LRG_778:g.166916del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.3783del ENSP00000453958.2:p.Tyr1261Ter
ENST00000674301.2:c.3783del ENSP00000501333.2:p.Tyr1261Ter
ENST00000684448.1:n.2457del
ENST00000316623.10:c.3783del MANE Select ENSP00000325527.5:p.Tyr1261Ter
ENST00000316623.9:c.3783del ENSP00000325527.5:p.Tyr1261Ter
ENST00000537463.6:c.637-9223del ENSP00000440294.2:n.637-9223del
NM_000138.4:c.3783del , LRG_778t1:c.3783del NP_000129.3:p.Tyr1261Ter
NM_000138.5:c.3783del MANE Select NP_000129.3:p.Tyr1261Ter
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