Canonical Allele Identifier: CA1139663931

Gene: FBN1

Linked Data

• ClinVar Variation Id: 986809
• ClinVar RCV Id: RCV001267921
• dbSNP Id: rs2043151619

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445463_48445464dup , CM000677.2:g.48445463_48445464dup	GRCh38
NC_000015.9:g.48737660_48737661dup , CM000677.1:g.48737660_48737661dup	GRCh37
NC_000015.8:g.46524952_46524953dup	NCBI36
NG_008805.2:g.205326_205327dup , LRG_778:g.205326_205327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5830_5831dup	ENSP00000453958.2:p.Asn1944LysfsTer?
ENST00000674301.2:c.5830_5831dup	ENSP00000501333.2:p.Asn1944LysfsTer?
ENST00000684448.1:n.4504_4505dup
ENST00000316623.10:c.5830_5831dup MANE Select	ENSP00000325527.5:p.Asn1944LysfsTer?
ENST00000674301.1:c.829_830dup	ENSP00000501333.1:p.Asn277LysfsTer?
ENST00000316623.9:c.5830_5831dup	ENSP00000325527.5:p.Asn1944LysfsTer?
ENST00000537463.6:c.*1593_*1594dup	ENSP00000440294.2:n.*1593_*1594dup
ENST00000559133.5:c.1137_1138dup
NM_000138.4:c.5830_5831dup , LRG_778t1:c.5830_5831dup	NP_000129.3:p.Asn1944LysfsTer?
NM_000138.5:c.5830_5831dup MANE Select	NP_000129.3:p.Asn1944LysfsTer?