Canonical Allele Identifier: CA2175497534
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48428149G= , CM000677.2:g.48428149G= GRCh38
NC_000015.9:g.48720346G= , CM000677.1:g.48720346G= GRCh37
NC_000015.8:g.46507638G= NCBI36
NG_008805.2:g.222640C= , LRG_778:g.222640C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.6997+197C= ENSP00000453958.2:n.6997+197C=
ENST00000674301.2:c.*448+197C= ENSP00000501333.2:n.*448+197C=
ENST00000682170.1:n.803C=
ENST00000682767.1:n.232+197C=
ENST00000316623.10:c.6997+197C= MANE Select ENSP00000325527.5:n.6997+197C=
ENST00000674301.1:c.2101+197C= ENSP00000501333.1:n.2101+197C=
ENST00000316623.9:c.6997+197C= ENSP00000325527.5:n.6997+197C=
ENST00000559133.5:c.2304+197C=
ENST00000560720.1:n.481C=
NM_000138.4:c.6997+197C= , LRG_778t1:c.6997+197C= NP_000129.3:n.6997+197C=
NM_000138.5:c.6997+197C= MANE Select NP_000129.3:n.6997+197C=
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