Canonical Allele Identifier: CA2580613827

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1071674
• ClinVar RCV Id: RCV001384195
• dbSNP Id: rs2141229990

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428438_48428439del , CM000677.2:g.48428438_48428439del	GRCh38
NC_000015.9:g.48720635_48720636del , CM000677.1:g.48720635_48720636del	GRCh37
NC_000015.8:g.46507927_46507928del	NCBI36
NG_008805.2:g.222352_222353del , LRG_778:g.222352_222353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6906_6907del	ENSP00000453958.2:p.Cys2302Ter
ENST00000674301.2:c.*357_*358del	ENSP00000501333.2:n.*357_*358del
ENST00000682170.1:n.515_516del
ENST00000682767.1:n.141_142del
ENST00000316623.10:c.6906_6907del MANE Select	ENSP00000325527.5:p.Cys2302Ter
ENST00000674301.1:c.2010_2011del	ENSP00000501333.1:n.2010_2011del
ENST00000316623.9:c.6906_6907del	ENSP00000325527.5:p.Cys2302Ter
ENST00000559133.5:c.2213_2214del
ENST00000560720.1:n.193_194del
NM_000138.4:c.6906_6907del , LRG_778t1:c.6906_6907del	NP_000129.3:p.Cys2302Ter
NM_000138.5:c.6906_6907del MANE Select	NP_000129.3:p.Cys2302Ter