Canonical Allele Identifier: CA2573150945

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1453586
• ClinVar RCV Id: RCV002002486
• dbSNP Id: rs2141245482

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441816_48441817insAGGGA , CM000677.2:g.48441816_48441817insAGGGA	GRCh38
NC_000015.9:g.48734013_48734014insAGGGA , CM000677.1:g.48734013_48734014insAGGGA	GRCh37
NC_000015.8:g.46521305_46521306insAGGGA	NCBI36
NG_008805.2:g.208973_208974insCCCTT , LRG_778:g.208973_208974insCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6068_6069insCCCTT	ENSP00000453958.2:p.Cys2024ProfsTer?
ENST00000674301.2:c.6068_6069insCCCTT	ENSP00000501333.2:p.Cys2024ProfsTer?
ENST00000316623.10:c.6068_6069insCCCTT MANE Select	ENSP00000325527.5:p.Cys2024ProfsTer?
ENST00000674301.1:c.1067_1068insCCCTT	ENSP00000501333.1:p.Cys357ProfsTer?
ENST00000316623.9:c.6068_6069insCCCTT	ENSP00000325527.5:p.Cys2024ProfsTer?
ENST00000537463.6:c.*1831_*1832insCCCTT	ENSP00000440294.2:n.*1831_*1832insCCCTT
ENST00000559133.5:c.1375_1376insCCCTT
ENST00000560820.1:n.188_189insCCCTT
NM_000138.4:c.6068_6069insCCCTT , LRG_778t1:c.6068_6069insCCCTT	NP_000129.3:p.Cys2024ProfsTer?
NM_000138.5:c.6068_6069insCCCTT MANE Select	NP_000129.3:p.Cys2024ProfsTer?