Canonical Allele Identifier: CA2175513096
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445141_48445155delinsCACACATATATATAT , CM000677.2:g.48445141_48445155delinsCACACATATATATAT GRCh38
NC_000015.9:g.48737338_48737352delinsCACACATATATATAT , CM000677.1:g.48737338_48737352delinsCACACATATATATAT GRCh37
NC_000015.8:g.46524630_46524644delinsCACACATATATATAT NCBI36
NG_008805.2:g.205634_205648delinsATATATATATGTGTG , LRG_778:g.205634_205648delinsATATATATATGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+221_5917+235delinsATATATATATGTGTG ENSP00000453958.2:n.5917+221_5917+235delinsATATATATATGTGTG
ENST00000674301.2:c.5917+221_5917+235delinsATATATATATGTGTG ENSP00000501333.2:n.5917+221_5917+235delinsATATATATATGTGTG
ENST00000684448.1:n.4591+221_4591+235delinsATATATATATGTGTG
ENST00000316623.10:c.5917+221_5917+235delinsATATATATATGTGTG MANE Select ENSP00000325527.5:n.5917+221_5917+235delinsATATATATATGTGTG
ENST00000674301.1:c.916+221_916+235delinsATATATATATGTGTG ENSP00000501333.1:n.916+221_916+235delinsATATATATATGTGTG
ENST00000316623.9:c.5917+221_5917+235delinsATATATATATGTGTG ENSP00000325527.5:n.5917+221_5917+235delinsATATATATATGTGTG
ENST00000537463.6:c.*1680+221_*1680+235delinsATATATATATGTGTG ENSP00000440294.2:n.*1680+221_*1680+235delinsATATATATATGTGTG
ENST00000559133.5:c.1224+221_1224+235delinsATATATATATGTGTG
ENST00000560820.1:n.37+221_37+235delinsATATATATATGTGTG
NM_000138.4:c.5917+221_5917+235delinsATATATATATGTGTG , LRG_778t1:c.5917+221_5917+235delinsATATATATATGTGTG NP_000129.3:n.5917+221_5917+235delinsATATATATATGTGTG
NM_000138.5:c.5917+221_5917+235delinsATATATATATGTGTG MANE Select NP_000129.3:n.5917+221_5917+235delinsATATATATATGTGTG
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