Canonical Allele Identifier: CA2573150763
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433293
ClinVar RCV Id: RCV001982215
dbSNP Id: rs2141280251
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474612_48474613del , CM000677.2:g.48474612_48474613del GRCh38
NC_000015.9:g.48766809_48766810del , CM000677.1:g.48766809_48766810del GRCh37
NC_000015.8:g.46554101_46554102del NCBI36
NG_008805.2:g.176176_176177del , LRG_778:g.176176_176177del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4002_4003del ENSP00000453958.2:p.Lys1335ThrfsTer14
ENST00000674301.2:c.4002_4003del ENSP00000501333.2:p.Lys1335ThrfsTer14
ENST00000684448.1:n.2676_2677del
ENST00000316623.10:c.4002_4003del MANE Select ENSP00000325527.5:p.Lys1335ThrfsTer14
ENST00000316623.9:c.4002_4003del ENSP00000325527.5:p.Lys1335ThrfsTer14
ENST00000537463.6:c.674_675del ENSP00000440294.2:p.Ala225GlufsTer?
NM_000138.4:c.4002_4003del , LRG_778t1:c.4002_4003del NP_000129.3:p.Lys1335ThrfsTer14
NM_000138.5:c.4002_4003del MANE Select NP_000129.3:p.Lys1335ThrfsTer14
Search 100 bp 5'
Search 100 bp 3'