Canonical Allele Identifier: CA2175512981
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445121_48445125delinsCACAT , CM000677.2:g.48445121_48445125delinsCACAT GRCh38
NC_000015.9:g.48737318_48737322delinsCACAT , CM000677.1:g.48737318_48737322delinsCACAT GRCh37
NC_000015.8:g.46524610_46524614delinsCACAT NCBI36
NG_008805.2:g.205664_205668delinsATGTG , LRG_778:g.205664_205668delinsATGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+251_5917+255delinsATGTG ENSP00000453958.2:n.5917+251_5917+255delinsATGTG
ENST00000674301.2:c.5917+251_5917+255delinsATGTG ENSP00000501333.2:n.5917+251_5917+255delinsATGTG
ENST00000684448.1:n.4591+251_4591+255delinsATGTG
ENST00000316623.10:c.5917+251_5917+255delinsATGTG MANE Select ENSP00000325527.5:n.5917+251_5917+255delinsATGTG
ENST00000674301.1:c.916+251_916+255delinsATGTG ENSP00000501333.1:n.916+251_916+255delinsATGTG
ENST00000316623.9:c.5917+251_5917+255delinsATGTG ENSP00000325527.5:n.5917+251_5917+255delinsATGTG
ENST00000537463.6:c.*1680+251_*1680+255delinsATGTG ENSP00000440294.2:n.*1680+251_*1680+255delinsATGTG
ENST00000559133.5:c.1224+251_1224+255delinsATGTG
ENST00000560820.1:n.37+251_37+255delinsATGTG
NM_000138.4:c.5917+251_5917+255delinsATGTG , LRG_778t1:c.5917+251_5917+255delinsATGTG NP_000129.3:n.5917+251_5917+255delinsATGTG
NM_000138.5:c.5917+251_5917+255delinsATGTG MANE Select NP_000129.3:n.5917+251_5917+255delinsATGTG
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