Canonical Allele Identifier: CA2695220591

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467988_48468001del , CM000677.2:g.48467988_48468001del	GRCh38
NC_000015.9:g.48760185_48760198del , CM000677.1:g.48760185_48760198del	GRCh37
NC_000015.8:g.46547477_46547490del	NCBI36
NG_008805.2:g.182788_182801del , LRG_778:g.182788_182801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4684_4697del	ENSP00000453958.2:p.Cys1562GlyfsTer2
ENST00000674301.2:c.4684_4697del	ENSP00000501333.2:p.Cys1562GlyfsTer2
ENST00000684448.1:n.3358_3371del
ENST00000316623.10:c.4684_4697del MANE Select	ENSP00000325527.5:p.Cys1562GlyfsTer2
ENST00000316623.9:c.4684_4697del	ENSP00000325527.5:p.Cys1562GlyfsTer2
ENST00000537463.6:c.*447_*460del	ENSP00000440294.2:n.*447_*460del
NM_000138.4:c.4684_4697del , LRG_778t1:c.4684_4697del	NP_000129.3:p.Cys1562GlyfsTer2
NM_000138.5:c.4684_4697del MANE Select	NP_000129.3:p.Cys1562GlyfsTer2