Canonical Allele Identifier: CA2175537990
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48520933C= , CM000677.2:g.48520933C= GRCh38
NC_000015.9:g.48813130C= , CM000677.1:g.48813130C= GRCh37
NC_000015.8:g.46600422C= NCBI36
NG_008805.2:g.129856G= , LRG_778:g.129856G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.989-116G= ENSP00000453958.2:n.989-116G=
ENST00000674301.2:c.989-116G= ENSP00000501333.2:n.989-116G=
ENST00000316623.10:c.989-116G= MANE Select ENSP00000325527.5:n.989-116G=
ENST00000316623.9:c.989-116G= ENSP00000325527.5:n.989-116G=
ENST00000537463.6:c.636+16778G= ENSP00000440294.2:n.636+16778G=
NM_000138.4:c.989-116G= , LRG_778t1:c.989-116G= NP_000129.3:n.989-116G=
NM_000138.5:c.989-116G= MANE Select NP_000129.3:n.989-116G=
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