Canonical Allele Identifier: CA2544976135

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422257_48422261del , CM000677.2:g.48422257_48422261del	GRCh38
NC_000015.9:g.48714454_48714458del , CM000677.1:g.48714454_48714458del	GRCh37
NC_000015.8:g.46501746_46501750del	NCBI36
NG_008805.2:g.228528_228532del , LRG_778:g.228528_228532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-193_*262-189del	ENSP00000453958.2:n.*262-193_*262-189del
ENST00000674301.2:c.*967-193_*967-189del	ENSP00000501333.2:n.*967-193_*967-189del
ENST00000682170.1:n.1635-193_1635-189del
ENST00000682767.1:n.751-193_751-189del
ENST00000316623.10:c.7454-193_7454-189del MANE Select	ENSP00000325527.5:n.7454-193_7454-189del
ENST00000674301.1:c.2620-193_2620-189del	ENSP00000501333.1:n.2620-193_2620-189del
ENST00000316623.9:c.7454-193_7454-189del	ENSP00000325527.5:n.7454-193_7454-189del
ENST00000559133.5:c.2823-193_2823-189del
NM_000138.4:c.7454-193_7454-189del , LRG_778t1:c.7454-193_7454-189del	NP_000129.3:n.7454-193_7454-189del
NM_000138.5:c.7454-193_7454-189del MANE Select	NP_000129.3:n.7454-193_7454-189del