Canonical Allele Identifier: CA2695220599
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2945814
ClinVar RCV Id: RCV003803908
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468448_48468450delinsATCT , CM000677.2:g.48468448_48468450delinsATCT GRCh38
NC_000015.9:g.48760645_48760647delinsATCT , CM000677.1:g.48760645_48760647delinsATCT GRCh37
NC_000015.8:g.46547937_46547939delinsATCT NCBI36
NG_008805.2:g.182339_182341delinsAGAT , LRG_778:g.182339_182341delinsAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4544_4546delinsAGAT ENSP00000453958.2:p.Pro1515GlnfsTer4
ENST00000674301.2:c.4544_4546delinsAGAT ENSP00000501333.2:p.Pro1515GlnfsTer4
ENST00000684448.1:n.3218_3220delinsAGAT
ENST00000316623.10:c.4544_4546delinsAGAT MANE Select ENSP00000325527.5:p.Pro1515GlnfsTer4
ENST00000316623.9:c.4544_4546delinsAGAT ENSP00000325527.5:p.Pro1515GlnfsTer4
ENST00000537463.6:c.*307_*309delinsAGAT ENSP00000440294.2:n.*307_*309delinsAGAT
NM_000138.4:c.4544_4546delinsAGAT , LRG_778t1:c.4544_4546delinsAGAT NP_000129.3:p.Pro1515GlnfsTer4
NM_000138.5:c.4544_4546delinsAGAT MANE Select NP_000129.3:p.Pro1515GlnfsTer4
Search 100 bp 5'
Search 100 bp 3'