Canonical Allele Identifier: CA2175465085
Gene: FBN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48422260C= , CM000677.2:g.48422260C= GRCh38
NC_000015.9:g.48714457C= , CM000677.1:g.48714457C= GRCh37
NC_000015.8:g.46501749C= NCBI36
NG_008805.2:g.228529G= , LRG_778:g.228529G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*262-192G= ENSP00000453958.2:n.*262-192G=
ENST00000674301.2:c.*967-192G= ENSP00000501333.2:n.*967-192G=
ENST00000682170.1:n.1635-192G=
ENST00000682767.1:n.751-192G=
ENST00000316623.10:c.7454-192G= MANE Select ENSP00000325527.5:n.7454-192G=
ENST00000674301.1:c.2620-192G= ENSP00000501333.1:n.2620-192G=
ENST00000316623.9:c.7454-192G= ENSP00000325527.5:n.7454-192G=
ENST00000559133.5:c.2823-192G=
NM_000138.4:c.7454-192G= , LRG_778t1:c.7454-192G= NP_000129.3:n.7454-192G=
NM_000138.5:c.7454-192G= MANE Select NP_000129.3:n.7454-192G=
Search 100 bp 5'
Search 100 bp 3'