Canonical Allele Identifier: CA915946622

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412694_48412695del , CM000677.2:g.48412694_48412695del	GRCh38
NC_000015.9:g.48704891_48704892del , CM000677.1:g.48704891_48704892del	GRCh37
NC_000015.8:g.46492183_46492184del	NCBI36
NG_008805.2:g.238095_238096del , LRG_778:g.238095_238096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*909_*910del	ENSP00000453958.2:n.*909_*910del
ENST00000674301.2:c.*1614_*1615del	ENSP00000501333.2:n.*1614_*1615del
ENST00000682158.1:n.1482_1483del
ENST00000682170.1:n.2282_2283del
ENST00000682767.1:n.1398_1399del
ENST00000316623.10:c.8101_8102del MANE Select	ENSP00000325527.5:p.Val2701GlnfsTer3
ENST00000674301.1:c.3267_3268del	ENSP00000501333.1:n.3267_3268del
ENST00000316623.9:c.8101_8102del	ENSP00000325527.5:p.Val2701GlnfsTer3
ENST00000559133.5:c.3470_3471del
ENST00000561429.1:n.356_357del
NM_000138.4:c.8101_8102del , LRG_778t1:c.8101_8102del	NP_000129.3:p.Val2701GlnfsTer3
NM_000138.5:c.8101_8102del MANE Select	NP_000129.3:p.Val2701GlnfsTer3