Canonical Allele Identifier: CA969550433
Gene: FBN1 HGNC NCBI

Linked Data

gnomAD v3: 15-48445153-T-TATACACAC
gnomAD v4: 15-48445153-T-TATACACAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445158_48445159insCACATACA , CM000677.2:g.48445158_48445159insCACATACA GRCh38
NC_000015.9:g.48737355_48737356insCACATACA , CM000677.1:g.48737355_48737356insCACATACA GRCh37
NC_000015.8:g.46524647_46524648insCACATACA NCBI36
NG_008805.2:g.205635_205636insGTGTGTAT , LRG_778:g.205635_205636insGTGTGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+222_5917+223insGTGTGTAT ENSP00000453958.2:n.5917+222_5917+223insGTGTGTAT
ENST00000674301.2:c.5917+222_5917+223insGTGTGTAT ENSP00000501333.2:n.5917+222_5917+223insGTGTGTAT
ENST00000684448.1:n.4591+222_4591+223insGTGTGTAT
ENST00000316623.10:c.5917+222_5917+223insGTGTGTAT MANE Select ENSP00000325527.5:n.5917+222_5917+223insGTGTGTAT
ENST00000674301.1:c.916+222_916+223insGTGTGTAT ENSP00000501333.1:n.916+222_916+223insGTGTGTAT
ENST00000316623.9:c.5917+222_5917+223insGTGTGTAT ENSP00000325527.5:n.5917+222_5917+223insGTGTGTAT
ENST00000537463.6:c.*1680+222_*1680+223insGTGTGTAT ENSP00000440294.2:n.*1680+222_*1680+223insGTGTGTAT
ENST00000559133.5:c.1224+222_1224+223insGTGTGTAT
ENST00000560820.1:n.37+222_37+223insGTGTGTAT
NM_000138.4:c.5917+222_5917+223insGTGTGTAT , LRG_778t1:c.5917+222_5917+223insGTGTGTAT NP_000129.3:n.5917+222_5917+223insGTGTGTAT
NM_000138.5:c.5917+222_5917+223insGTGTGTAT MANE Select NP_000129.3:n.5917+222_5917+223insGTGTGTAT
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