Canonical Allele Identifier: CA2175513389
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445184_48445188delinsGTATA , CM000677.2:g.48445184_48445188delinsGTATA GRCh38
NC_000015.9:g.48737381_48737385delinsGTATA , CM000677.1:g.48737381_48737385delinsGTATA GRCh37
NC_000015.8:g.46524673_46524677delinsGTATA NCBI36
NG_008805.2:g.205601_205605delinsTATAC , LRG_778:g.205601_205605delinsTATAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+188_5917+192delinsTATAC ENSP00000453958.2:n.5917+188_5917+192delinsTATAC
ENST00000674301.2:c.5917+188_5917+192delinsTATAC ENSP00000501333.2:n.5917+188_5917+192delinsTATAC
ENST00000684448.1:n.4591+188_4591+192delinsTATAC
ENST00000316623.10:c.5917+188_5917+192delinsTATAC MANE Select ENSP00000325527.5:n.5917+188_5917+192delinsTATAC
ENST00000674301.1:c.916+188_916+192delinsTATAC ENSP00000501333.1:n.916+188_916+192delinsTATAC
ENST00000316623.9:c.5917+188_5917+192delinsTATAC ENSP00000325527.5:n.5917+188_5917+192delinsTATAC
ENST00000537463.6:c.*1680+188_*1680+192delinsTATAC ENSP00000440294.2:n.*1680+188_*1680+192delinsTATAC
ENST00000559133.5:c.1224+188_1224+192delinsTATAC
ENST00000560820.1:n.37+188_37+192delinsTATAC
NM_000138.4:c.5917+188_5917+192delinsTATAC , LRG_778t1:c.5917+188_5917+192delinsTATAC NP_000129.3:n.5917+188_5917+192delinsTATAC
NM_000138.5:c.5917+188_5917+192delinsTATAC MANE Select NP_000129.3:n.5917+188_5917+192delinsTATAC
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