Canonical Allele Identifier: CA2175513770
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48486883T= , CM000677.2:g.48486883T= GRCh38
NC_000015.9:g.48779080T= , CM000677.1:g.48779080T= GRCh37
NC_000015.8:g.46566372T= NCBI36
NG_008805.2:g.163906A= , LRG_778:g.163906A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3589+192A= ENSP00000453958.2:n.3589+192A=
ENST00000674301.2:c.3589+192A= ENSP00000501333.2:n.3589+192A=
ENST00000684448.1:n.2263+192A=
ENST00000316623.10:c.3589+192A= MANE Select ENSP00000325527.5:n.3589+192A=
ENST00000316623.9:c.3589+192A= ENSP00000325527.5:n.3589+192A=
ENST00000537463.6:c.637-12233A= ENSP00000440294.2:n.637-12233A=
NM_000138.4:c.3589+192A= , LRG_778t1:c.3589+192A= NP_000129.3:n.3589+192A=
NM_000138.5:c.3589+192A= MANE Select NP_000129.3:n.3589+192A=
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