Canonical Allele Identifier: CA2505043718

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428331_48428335del , CM000677.2:g.48428331_48428335del	GRCh38
NC_000015.9:g.48720528_48720532del , CM000677.1:g.48720528_48720532del	GRCh37
NC_000015.8:g.46507820_46507824del	NCBI36
NG_008805.2:g.222454_222458del , LRG_778:g.222454_222458del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6997+11_6997+15del	ENSP00000453958.2:n.6997+11_6997+15del
ENST00000674301.2:c.*448+11_*448+15del	ENSP00000501333.2:n.*448+11_*448+15del
ENST00000682170.1:n.617_621del
ENST00000682767.1:n.232+11_232+15del
ENST00000316623.10:c.6997+11_6997+15del MANE Select	ENSP00000325527.5:n.6997+11_6997+15del
ENST00000674301.1:c.2101+11_2101+15del	ENSP00000501333.1:n.2101+11_2101+15del
ENST00000316623.9:c.6997+11_6997+15del	ENSP00000325527.5:n.6997+11_6997+15del
ENST00000559133.5:c.2304+11_2304+15del
ENST00000560720.1:n.295_299del
NM_000138.4:c.6997+11_6997+15del , LRG_778t1:c.6997+11_6997+15del	NP_000129.3:n.6997+11_6997+15del
NM_000138.5:c.6997+11_6997+15del MANE Select	NP_000129.3:n.6997+11_6997+15del