Canonical Allele Identifier: CA2175513831
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48486950A= , CM000677.2:g.48486950A= GRCh38
NC_000015.9:g.48779147A= , CM000677.1:g.48779147A= GRCh37
NC_000015.8:g.46566439A= NCBI36
NG_008805.2:g.163839T= , LRG_778:g.163839T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3589+125T= ENSP00000453958.2:n.3589+125T=
ENST00000674301.2:c.3589+125T= ENSP00000501333.2:n.3589+125T=
ENST00000684448.1:n.2263+125T=
ENST00000316623.10:c.3589+125T= MANE Select ENSP00000325527.5:n.3589+125T=
ENST00000316623.9:c.3589+125T= ENSP00000325527.5:n.3589+125T=
ENST00000537463.6:c.637-12300T= ENSP00000440294.2:n.637-12300T=
NM_000138.4:c.3589+125T= , LRG_778t1:c.3589+125T= NP_000129.3:n.3589+125T=
NM_000138.5:c.3589+125T= MANE Select NP_000129.3:n.3589+125T=
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