Canonical Allele Identifier: CA2175488098
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48412772T= , CM000677.2:g.48412772T= GRCh38
NC_000015.9:g.48704969T= , CM000677.1:g.48704969T= GRCh37
NC_000015.8:g.46492261T= NCBI36
NG_008805.2:g.238017A= , LRG_778:g.238017A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*860-29A= ENSP00000453958.2:n.*860-29A=
ENST00000674301.2:c.*1565-29A= ENSP00000501333.2:n.*1565-29A=
ENST00000682158.1:n.1433-29A=
ENST00000682170.1:n.2233-29A=
ENST00000682767.1:n.1349-29A=
ENST00000316623.10:c.8052-29A= MANE Select ENSP00000325527.5:n.8052-29A=
ENST00000674301.1:c.3218-29A= ENSP00000501333.1:n.3218-29A=
ENST00000316623.9:c.8052-29A= ENSP00000325527.5:n.8052-29A=
ENST00000559133.5:c.3421-29A=
ENST00000561429.1:n.307-29A=
NM_000138.4:c.8052-29A= , LRG_778t1:c.8052-29A= NP_000129.3:n.8052-29A=
NM_000138.5:c.8052-29A= MANE Select NP_000129.3:n.8052-29A=
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