Canonical Allele Identifier: CA2175485897

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410672_48410673delinsTC , CM000677.2:g.48410672_48410673delinsTC	GRCh38
NC_000015.9:g.48702869_48702870delinsTC , CM000677.1:g.48702869_48702870delinsTC	GRCh37
NC_000015.8:g.46490161_46490162delinsTC	NCBI36
NG_008805.2:g.240116_240117delinsGA , LRG_778:g.240116_240117delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1741_*1742delinsGA	ENSP00000453958.2:n.*1741_*1742delinsGA
ENST00000682158.1:n.2314_2315delinsGA
ENST00000682170.1:n.3114_3115delinsGA
ENST00000682767.1:n.2230_2231delinsGA
ENST00000316623.10:c.*317_*318delinsGA MANE Select	ENSP00000325527.5:n.*317_*318delinsGA
ENST00000316623.9:c.*317_*318delinsGA	ENSP00000325527.5:n.*317_*318delinsGA
ENST00000559133.5:c.4302_4303delinsGA
NM_000138.4:c.*317_*318delinsGA , LRG_778t1:c.*317_*318delinsGA	NP_000129.3:n.*317_*318delinsGA
NM_000138.5:c.*317_*318delinsGA MANE Select	NP_000129.3:n.*317_*318delinsGA