Canonical Allele Identifier: CA658824325
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547316
ClinVar RCV Id: RCV000659536
dbSNP Id: rs1555397736
MyVariant Identifiers: chr15:g.48766819del (hg19) chr15:g.48474622del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474622del , CM000677.2:g.48474622del GRCh38
NC_000015.9:g.48766819del , CM000677.1:g.48766819del GRCh37
NC_000015.8:g.46554111del NCBI36
NG_008805.2:g.176167del , LRG_778:g.176167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3993del ENSP00000453958.2:p.His1331GlnfsTer?
ENST00000674301.2:c.3993del ENSP00000501333.2:p.His1331GlnfsTer?
ENST00000684448.1:n.2667del
ENST00000316623.10:c.3993del MANE Select ENSP00000325527.5:p.His1331GlnfsTer?
ENST00000316623.9:c.3993del ENSP00000325527.5:p.His1331GlnfsTer?
ENST00000537463.6:c.665del ENSP00000440294.2:p.Thr222LysfsTer18
NM_000138.4:c.3993del , LRG_778t1:c.3993del NP_000129.3:p.His1331GlnfsTer?
NM_000138.5:c.3993del MANE Select NP_000129.3:p.His1331GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'