Canonical Allele Identifier: CA2175486058

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410939_48410940delinsTA , CM000677.2:g.48410939_48410940delinsTA	GRCh38
NC_000015.9:g.48703136_48703137delinsTA , CM000677.1:g.48703136_48703137delinsTA	GRCh37
NC_000015.8:g.46490428_46490429delinsTA	NCBI36
NG_008805.2:g.239849_239850delinsTA , LRG_778:g.239849_239850delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1474_*1475delinsTA	ENSP00000453958.2:n.*1474_*1475delinsTA
ENST00000682158.1:n.2047_2048delinsTA
ENST00000682170.1:n.2847_2848delinsTA
ENST00000682767.1:n.1963_1964delinsTA
ENST00000316623.10:c.*50_*51delinsTA MANE Select	ENSP00000325527.5:n.*50_*51delinsTA
ENST00000316623.9:c.*50_*51delinsTA	ENSP00000325527.5:n.*50_*51delinsTA
ENST00000559133.5:c.4035_4036delinsTA
NM_000138.4:c.*50_*51delinsTA , LRG_778t1:c.*50_*51delinsTA	NP_000129.3:n.*50_*51delinsTA
NM_000138.5:c.*50_*51delinsTA MANE Select	NP_000129.3:n.*50_*51delinsTA