Canonical Allele Identifier: CA2695220495

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411385_48411388del , CM000677.2:g.48411385_48411388del	GRCh38
NC_000015.9:g.48703582_48703585del , CM000677.1:g.48703582_48703585del	GRCh37
NC_000015.8:g.46490874_46490877del	NCBI36
NG_008805.2:g.239403_239406del , LRG_778:g.239403_239406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-7_*1035-4del	ENSP00000453958.2:n.*1035-7_*1035-4del
ENST00000674301.2:c.*1740-7_*1740-4del	ENSP00000501333.2:n.*1740-7_*1740-4del
ENST00000682158.1:n.1608-7_1608-4del
ENST00000682170.1:n.2408-7_2408-4del
ENST00000682767.1:n.1524-7_1524-4del
ENST00000316623.10:c.8227-7_8227-4del MANE Select	ENSP00000325527.5:n.8227-7_8227-4del
ENST00000674301.1:c.3393-7_3393-4del	ENSP00000501333.1:n.3393-7_3393-4del
ENST00000316623.9:c.8227-7_8227-4del	ENSP00000325527.5:n.8227-7_8227-4del
ENST00000559133.5:c.3596-7_3596-4del
ENST00000561429.1:n.482-7_482-4del
NM_000138.4:c.8227-7_8227-4del , LRG_778t1:c.8227-7_8227-4del	NP_000129.3:n.8227-7_8227-4del
NM_000138.5:c.8227-7_8227-4del MANE Select	NP_000129.3:n.8227-7_8227-4del