Canonical Allele Identifier: CA645509188

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48420689_48420691del , CM000677.2:g.48420689_48420691del	GRCh38
NC_000015.9:g.48712886_48712888del , CM000677.1:g.48712886_48712888del	GRCh37
NC_000015.8:g.46500178_46500180del	NCBI36
NG_008805.2:g.230100_230102del , LRG_778:g.230100_230102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*625_*627del	ENSP00000453958.2:n.*625_*627del
ENST00000674301.2:c.*1330_*1332del	ENSP00000501333.2:n.*1330_*1332del
ENST00000682170.1:n.1998_2000del
ENST00000682767.1:n.1114_1116del
ENST00000316623.10:c.7817_7819del MANE Select	ENSP00000325527.5:p.Val2606del
ENST00000674301.1:c.2983_2985del	ENSP00000501333.1:n.2983_2985del
ENST00000316623.9:c.7817_7819del	ENSP00000325527.5:p.Val2606del
ENST00000559133.5:c.3186_3188del
NM_000138.4:c.7817_7819del , LRG_778t1:c.7817_7819del	NP_000129.3:p.Val2606del
NM_000138.5:c.7817_7819del MANE Select	NP_000129.3:p.Val2606del