Canonical Allele Identifier: CA2175486051

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410926_48410927delinsGA , CM000677.2:g.48410926_48410927delinsGA	GRCh38
NC_000015.9:g.48703123_48703124delinsGA , CM000677.1:g.48703123_48703124delinsGA	GRCh37
NC_000015.8:g.46490415_46490416delinsGA	NCBI36
NG_008805.2:g.239862_239863delinsTC , LRG_778:g.239862_239863delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1487_*1488delinsTC	ENSP00000453958.2:n.*1487_*1488delinsTC
ENST00000682158.1:n.2060_2061delinsTC
ENST00000682170.1:n.2860_2861delinsTC
ENST00000682767.1:n.1976_1977delinsTC
ENST00000316623.10:c.*63_*64delinsTC MANE Select	ENSP00000325527.5:n.*63_*64delinsTC
ENST00000316623.9:c.*63_*64delinsTC	ENSP00000325527.5:n.*63_*64delinsTC
ENST00000559133.5:c.4048_4049delinsTC
NM_000138.4:c.*63_*64delinsTC , LRG_778t1:c.*63_*64delinsTC	NP_000129.3:n.*63_*64delinsTC
NM_000138.5:c.*63_*64delinsTC MANE Select	NP_000129.3:n.*63_*64delinsTC