Canonical Allele Identifier: CA915946644
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 665490
ClinVar RCV Id: RCV000823791
dbSNP Id: rs1597522485
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48432936_48432937del , CM000677.2:g.48432936_48432937del GRCh38
NC_000015.9:g.48725133_48725134del , CM000677.1:g.48725133_48725134del GRCh37
NC_000015.8:g.46512425_46512426del NCBI36
NG_008805.2:g.217854_217855del , LRG_778:g.217854_217855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6670_6671del ENSP00000453958.2:p.Thr2224LeufsTer5
ENST00000674301.2:c.*121_*122del ENSP00000501333.2:n.*121_*122del
ENST00000682170.1:n.279_280del
ENST00000316623.10:c.6670_6671del MANE Select ENSP00000325527.5:p.Thr2224LeufsTer5
ENST00000674301.1:c.1774_1775del ENSP00000501333.1:n.1774_1775del
ENST00000316623.9:c.6670_6671del ENSP00000325527.5:p.Thr2224LeufsTer5
ENST00000537463.6:c.*2433_*2434del ENSP00000440294.2:n.*2433_*2434del
ENST00000559133.5:c.1977_1978del
NM_000138.4:c.6670_6671del , LRG_778t1:c.6670_6671del NP_000129.3:p.Thr2224LeufsTer5
NM_000138.5:c.6670_6671del MANE Select NP_000129.3:p.Thr2224LeufsTer5
Search 100 bp 5'
Search 100 bp 3'