Canonical Allele Identifier: CA2175526312
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48503744C= , CM000677.2:g.48503744C= GRCh38
NC_000015.9:g.48795941C= , CM000677.1:g.48795941C= GRCh37
NC_000015.8:g.46583233C= NCBI36
NG_008805.2:g.147045G= , LRG_778:g.147045G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2113+43G= ENSP00000453958.2:n.2113+43G=
ENST00000674301.2:c.2113+43G= ENSP00000501333.2:n.2113+43G=
ENST00000684448.1:n.787+43G=
ENST00000316623.10:c.2113+43G= MANE Select ENSP00000325527.5:n.2113+43G=
ENST00000316623.9:c.2113+43G= ENSP00000325527.5:n.2113+43G=
ENST00000537463.6:c.637-29094G= ENSP00000440294.2:n.637-29094G=
NM_000138.4:c.2113+43G= , LRG_778t1:c.2113+43G= NP_000129.3:n.2113+43G=
NM_000138.5:c.2113+43G= MANE Select NP_000129.3:n.2113+43G=
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