Canonical Allele Identifier: CA1139663948

Gene: FBN1

Linked Data

• ClinVar Variation Id: 966281
• ClinVar RCV Id: RCV001240923
• dbSNP Id: rs2043337762

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468059_48468060delinsGAATGGAGATTAT , CM000677.2:g.48468059_48468060delinsGAATGGAGATTAT	GRCh38
NC_000015.9:g.48760256_48760257delinsGAATGGAGATTAT , CM000677.1:g.48760256_48760257delinsGAATGGAGATTAT	GRCh37
NC_000015.8:g.46547548_46547549delinsGAATGGAGATTAT	NCBI36
NG_008805.2:g.182729_182730delinsATAATCTCCATTC , LRG_778:g.182729_182730delinsATAATCTCCATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4625_4626delinsATAATCTCCATTC	ENSP00000453958.2:p.Gly1542AspfsTer?
ENST00000674301.2:c.4625_4626delinsATAATCTCCATTC	ENSP00000501333.2:p.Gly1542AspfsTer?
ENST00000684448.1:n.3299_3300delinsATAATCTCCATTC
ENST00000316623.10:c.4625_4626delinsATAATCTCCATTC MANE Select	ENSP00000325527.5:p.Gly1542AspfsTer?
ENST00000316623.9:c.4625_4626delinsATAATCTCCATTC	ENSP00000325527.5:p.Gly1542AspfsTer?
ENST00000537463.6:c.*388_*389delinsATAATCTCCATTC	ENSP00000440294.2:n.*388_*389delinsATAATCTCCATTC
NM_000138.4:c.4625_4626delinsATAATCTCCATTC , LRG_778t1:c.4625_4626delinsATAATCTCCATTC	NP_000129.3:p.Gly1542AspfsTer?
NM_000138.5:c.4625_4626delinsATAATCTCCATTC MANE Select	NP_000129.3:p.Gly1542AspfsTer?