Canonical Allele Identifier: CA618009187
Gene: FBN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48411386_48411387insTT , CM000677.2:g.48411386_48411387insTT GRCh38
NC_000015.9:g.48703583_48703584insTT , CM000677.1:g.48703583_48703584insTT GRCh37
NC_000015.8:g.46490875_46490876insTT NCBI36
NG_008805.2:g.239402_239403insAA , LRG_778:g.239402_239403insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.*1035-8_*1035-7insAA ENSP00000453958.2:n.*1035-8_*1035-7insAA
ENST00000674301.2:c.*1740-8_*1740-7insAA ENSP00000501333.2:n.*1740-8_*1740-7insAA
ENST00000682158.1:n.1608-8_1608-7insAA
ENST00000682170.1:n.2408-8_2408-7insAA
ENST00000682767.1:n.1524-8_1524-7insAA
ENST00000316623.10:c.8227-8_8227-7insAA MANE Select ENSP00000325527.5:n.8227-8_8227-7insAA
ENST00000674301.1:c.3393-8_3393-7insAA ENSP00000501333.1:n.3393-8_3393-7insAA
ENST00000316623.9:c.8227-8_8227-7insAA ENSP00000325527.5:n.8227-8_8227-7insAA
ENST00000559133.5:c.3596-8_3596-7insAA
ENST00000561429.1:n.482-8_482-7insAA
NM_000138.4:c.8227-8_8227-7insAA , LRG_778t1:c.8227-8_8227-7insAA NP_000129.3:n.8227-8_8227-7insAA
NM_000138.5:c.8227-8_8227-7insAA MANE Select NP_000129.3:n.8227-8_8227-7insAA