Canonical Allele Identifier: CA2175513052
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445133_48445137delinsTATAC , CM000677.2:g.48445133_48445137delinsTATAC GRCh38
NC_000015.9:g.48737330_48737334delinsTATAC , CM000677.1:g.48737330_48737334delinsTATAC GRCh37
NC_000015.8:g.46524622_46524626delinsTATAC NCBI36
NG_008805.2:g.205652_205656delinsGTATA , LRG_778:g.205652_205656delinsGTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+239_5917+243delinsGTATA ENSP00000453958.2:n.5917+239_5917+243delinsGTATA
ENST00000674301.2:c.5917+239_5917+243delinsGTATA ENSP00000501333.2:n.5917+239_5917+243delinsGTATA
ENST00000684448.1:n.4591+239_4591+243delinsGTATA
ENST00000316623.10:c.5917+239_5917+243delinsGTATA MANE Select ENSP00000325527.5:n.5917+239_5917+243delinsGTATA
ENST00000674301.1:c.916+239_916+243delinsGTATA ENSP00000501333.1:n.916+239_916+243delinsGTATA
ENST00000316623.9:c.5917+239_5917+243delinsGTATA ENSP00000325527.5:n.5917+239_5917+243delinsGTATA
ENST00000537463.6:c.*1680+239_*1680+243delinsGTATA ENSP00000440294.2:n.*1680+239_*1680+243delinsGTATA
ENST00000559133.5:c.1224+239_1224+243delinsGTATA
ENST00000560820.1:n.37+239_37+243delinsGTATA
NM_000138.4:c.5917+239_5917+243delinsGTATA , LRG_778t1:c.5917+239_5917+243delinsGTATA NP_000129.3:n.5917+239_5917+243delinsGTATA
NM_000138.5:c.5917+239_5917+243delinsGTATA MANE Select NP_000129.3:n.5917+239_5917+243delinsGTATA
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