Canonical Allele Identifier: CA2175573630
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48611021A= , CM000677.2:g.48611021A= GRCh38
NC_000015.9:g.48903218A= , CM000677.1:g.48903218A= GRCh37
NC_000015.8:g.46690510A= NCBI36
NG_008805.2:g.39768T= , LRG_778:g.39768T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.248-195T= ENSP00000453958.2:n.248-195T=
ENST00000674301.2:c.248-195T= ENSP00000501333.2:n.248-195T=
ENST00000316623.10:c.248-195T= MANE Select ENSP00000325527.5:n.248-195T=
ENST00000316623.9:c.248-195T= ENSP00000325527.5:n.248-195T=
ENST00000537463.6:c.248-195T= ENSP00000440294.2:n.248-195T=
NM_000138.4:c.248-195T= , LRG_778t1:c.248-195T= NP_000129.3:n.248-195T=
NM_000138.5:c.248-195T= MANE Select NP_000129.3:n.248-195T=
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