Canonical Allele Identifier: CA2580089610

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412699_48412708del , CM000677.2:g.48412699_48412708del	GRCh38
NC_000015.9:g.48704896_48704905del , CM000677.1:g.48704896_48704905del	GRCh37
NC_000015.8:g.46492188_46492197del	NCBI36
NG_008805.2:g.238084_238093del , LRG_778:g.238084_238093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*898_*907del	ENSP00000453958.2:n.*898_*907del
ENST00000674301.2:c.*1603_*1612del	ENSP00000501333.2:n.*1603_*1612del
ENST00000682158.1:n.1471_1480del
ENST00000682170.1:n.2271_2280del
ENST00000682767.1:n.1387_1396del
ENST00000316623.10:c.8090_8099del MANE Select	ENSP00000325527.5:p.Pro2697LeufsTer?
ENST00000674301.1:c.3256_3265del	ENSP00000501333.1:n.3256_3265del
ENST00000316623.9:c.8090_8099del	ENSP00000325527.5:p.Pro2697LeufsTer?
ENST00000559133.5:c.3459_3468del
ENST00000561429.1:n.345_354del
NM_000138.4:c.8090_8099del , LRG_778t1:c.8090_8099del	NP_000129.3:p.Pro2697LeufsTer?
NM_000138.5:c.8090_8099del MANE Select	NP_000129.3:p.Pro2697LeufsTer?