Canonical Allele Identifier: CA658683888
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495553
ClinVar RCV Id: RCV000590596
dbSNP Id: rs1555400598
MyVariant Identifiers: chr15:g.48812915del (hg19) chr15:g.48520718del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520719del , CM000677.2:g.48520719del GRCh38
NC_000015.9:g.48812916del , CM000677.1:g.48812916del GRCh37
NC_000015.8:g.46600208del NCBI36
NG_008805.2:g.130071del , LRG_778:g.130071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1088del ENSP00000453958.2:p.Gly363AlafsTer?
ENST00000674301.2:c.1088del ENSP00000501333.2:p.Gly363AlafsTer?
ENST00000316623.10:c.1088del MANE Select ENSP00000325527.5:p.Gly363AlafsTer?
ENST00000316623.9:c.1088del ENSP00000325527.5:p.Gly363AlafsTer?
ENST00000537463.6:c.636+16993del ENSP00000440294.2:n.636+16993del
NM_000138.4:c.1088del , LRG_778t1:c.1088del NP_000129.3:p.Gly363AlafsTer?
NM_000138.5:c.1088del MANE Select NP_000129.3:p.Gly363AlafsTer?
Search 100 bp 5'
Search 100 bp 3'