Canonical Allele Identifier: CA2175492073
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445315_48445319delinsATGAT , CM000677.2:g.48445315_48445319delinsATGAT GRCh38
NC_000015.9:g.48737512_48737516delinsATGAT , CM000677.1:g.48737512_48737516delinsATGAT GRCh37
NC_000015.8:g.46524804_46524808delinsATGAT NCBI36
NG_008805.2:g.205470_205474delinsATCAT , LRG_778:g.205470_205474delinsATCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+57_5917+61delinsATCAT ENSP00000453958.2:n.5917+57_5917+61delinsATCAT
ENST00000674301.2:c.5917+57_5917+61delinsATCAT ENSP00000501333.2:n.5917+57_5917+61delinsATCAT
ENST00000684448.1:n.4591+57_4591+61delinsATCAT
ENST00000316623.10:c.5917+57_5917+61delinsATCAT MANE Select ENSP00000325527.5:n.5917+57_5917+61delinsATCAT
ENST00000674301.1:c.916+57_916+61delinsATCAT ENSP00000501333.1:n.916+57_916+61delinsATCAT
ENST00000316623.9:c.5917+57_5917+61delinsATCAT ENSP00000325527.5:n.5917+57_5917+61delinsATCAT
ENST00000537463.6:c.*1680+57_*1680+61delinsATCAT ENSP00000440294.2:n.*1680+57_*1680+61delinsATCAT
ENST00000559133.5:c.1224+57_1224+61delinsATCAT
ENST00000560820.1:n.37+57_37+61delinsATCAT
NM_000138.4:c.5917+57_5917+61delinsATCAT , LRG_778t1:c.5917+57_5917+61delinsATCAT NP_000129.3:n.5917+57_5917+61delinsATCAT
NM_000138.5:c.5917+57_5917+61delinsATCAT MANE Select NP_000129.3:n.5917+57_5917+61delinsATCAT
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