Canonical Allele Identifier: CA969550444
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs769000569
gnomAD v3: 15-48445155-T-TACAC
gnomAD v4: 15-48445155-T-TACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445158_48445159insCACA , CM000677.2:g.48445158_48445159insCACA GRCh38
NC_000015.9:g.48737355_48737356insCACA , CM000677.1:g.48737355_48737356insCACA GRCh37
NC_000015.8:g.46524647_46524648insCACA NCBI36
NG_008805.2:g.205633_205634insGTGT , LRG_778:g.205633_205634insGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+220_5917+221insGTGT ENSP00000453958.2:n.5917+220_5917+221insGTGT
ENST00000674301.2:c.5917+220_5917+221insGTGT ENSP00000501333.2:n.5917+220_5917+221insGTGT
ENST00000684448.1:n.4591+220_4591+221insGTGT
ENST00000316623.10:c.5917+220_5917+221insGTGT MANE Select ENSP00000325527.5:n.5917+220_5917+221insGTGT
ENST00000674301.1:c.916+220_916+221insGTGT ENSP00000501333.1:n.916+220_916+221insGTGT
ENST00000316623.9:c.5917+220_5917+221insGTGT ENSP00000325527.5:n.5917+220_5917+221insGTGT
ENST00000537463.6:c.*1680+220_*1680+221insGTGT ENSP00000440294.2:n.*1680+220_*1680+221insGTGT
ENST00000559133.5:c.1224+220_1224+221insGTGT
ENST00000560820.1:n.37+220_37+221insGTGT
NM_000138.4:c.5917+220_5917+221insGTGT , LRG_778t1:c.5917+220_5917+221insGTGT NP_000129.3:n.5917+220_5917+221insGTGT
NM_000138.5:c.5917+220_5917+221insGTGT MANE Select NP_000129.3:n.5917+220_5917+221insGTGT
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