Canonical Allele Identifier: CA2840409843
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48504020del , CM000677.2:g.48504020del GRCh38
NC_000015.9:g.48796217del , CM000677.1:g.48796217del GRCh37
NC_000015.8:g.46583509del NCBI36
NG_008805.2:g.146771del , LRG_778:g.146771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.1961-79del ENSP00000453958.2:n.1961-79del
ENST00000674301.2:c.1961-79del ENSP00000501333.2:n.1961-79del
ENST00000684448.1:n.635-79del
ENST00000316623.10:c.1961-79del MANE Select ENSP00000325527.5:n.1961-79del
ENST00000316623.9:c.1961-79del ENSP00000325527.5:n.1961-79del
ENST00000537463.6:c.637-29368del ENSP00000440294.2:n.637-29368del
NM_000138.4:c.1961-79del , LRG_778t1:c.1961-79del NP_000129.3:n.1961-79del
NM_000138.5:c.1961-79del MANE Select NP_000129.3:n.1961-79del
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