Canonical Allele Identifier: CA2695220590

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467986_48467987del , CM000677.2:g.48467986_48467987del	GRCh38
NC_000015.9:g.48760183_48760184del , CM000677.1:g.48760183_48760184del	GRCh37
NC_000015.8:g.46547475_46547476del	NCBI36
NG_008805.2:g.182803_182804del , LRG_778:g.182803_182804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4699_4700del	ENSP00000453958.2:p.Gly1567Ter
ENST00000674301.2:c.4699_4700del	ENSP00000501333.2:p.Gly1567Ter
ENST00000684448.1:n.3373_3374del
ENST00000316623.10:c.4699_4700del MANE Select	ENSP00000325527.5:p.Gly1567Ter
ENST00000316623.9:c.4699_4700del	ENSP00000325527.5:p.Gly1567Ter
ENST00000537463.6:c.*462_*463del	ENSP00000440294.2:n.*462_*463del
ENST00000559133.5:c.6_7del
NM_000138.4:c.4699_4700del , LRG_778t1:c.4699_4700del	NP_000129.3:p.Gly1567Ter
NM_000138.5:c.4699_4700del MANE Select	NP_000129.3:p.Gly1567Ter