Canonical Allele Identifier: CA2175513301
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445171_48445175delinsCACAT , CM000677.2:g.48445171_48445175delinsCACAT GRCh38
NC_000015.9:g.48737368_48737372delinsCACAT , CM000677.1:g.48737368_48737372delinsCACAT GRCh37
NC_000015.8:g.46524660_46524664delinsCACAT NCBI36
NG_008805.2:g.205614_205618delinsATGTG , LRG_778:g.205614_205618delinsATGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+201_5917+205delinsATGTG ENSP00000453958.2:n.5917+201_5917+205delinsATGTG
ENST00000674301.2:c.5917+201_5917+205delinsATGTG ENSP00000501333.2:n.5917+201_5917+205delinsATGTG
ENST00000684448.1:n.4591+201_4591+205delinsATGTG
ENST00000316623.10:c.5917+201_5917+205delinsATGTG MANE Select ENSP00000325527.5:n.5917+201_5917+205delinsATGTG
ENST00000674301.1:c.916+201_916+205delinsATGTG ENSP00000501333.1:n.916+201_916+205delinsATGTG
ENST00000316623.9:c.5917+201_5917+205delinsATGTG ENSP00000325527.5:n.5917+201_5917+205delinsATGTG
ENST00000537463.6:c.*1680+201_*1680+205delinsATGTG ENSP00000440294.2:n.*1680+201_*1680+205delinsATGTG
ENST00000559133.5:c.1224+201_1224+205delinsATGTG
ENST00000560820.1:n.37+201_37+205delinsATGTG
NM_000138.4:c.5917+201_5917+205delinsATGTG , LRG_778t1:c.5917+201_5917+205delinsATGTG NP_000129.3:n.5917+201_5917+205delinsATGTG
NM_000138.5:c.5917+201_5917+205delinsATGTG MANE Select NP_000129.3:n.5917+201_5917+205delinsATGTG
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