Canonical Allele Identifier: CA2557761355

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410635_48410637del , CM000677.2:g.48410635_48410637del	GRCh38
NC_000015.9:g.48702832_48702834del , CM000677.1:g.48702832_48702834del	GRCh37
NC_000015.8:g.46490124_46490126del	NCBI36
NG_008805.2:g.240152_240154del , LRG_778:g.240152_240154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1777_*1779del	ENSP00000453958.2:n.*1777_*1779del
ENST00000682158.1:n.2350_2352del
ENST00000682170.1:n.3150_3152del
ENST00000682767.1:n.2266_2268del
ENST00000316623.10:c.*353_*355del MANE Select	ENSP00000325527.5:n.*353_*355del
ENST00000316623.9:c.*353_*355del	ENSP00000325527.5:n.*353_*355del
ENST00000559133.5:c.4338_4340del
NM_000138.4:c.*353_*355del , LRG_778t1:c.*353_*355del	NP_000129.3:n.*353_*355del
NM_000138.5:c.*353_*355del MANE Select	NP_000129.3:n.*353_*355del