Canonical Allele Identifier: CA2175498470

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1038497
• ClinVar RCV Id: RCV001341814
• dbSNP Id: rs2042999380

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428463_48428473dup , CM000677.2:g.48428463_48428473dup	GRCh38
NC_000015.9:g.48720660_48720670dup , CM000677.1:g.48720660_48720670dup	GRCh37
NC_000015.8:g.46507952_46507962dup	NCBI36
NG_008805.2:g.222317_222327dup , LRG_778:g.222317_222327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-1_6881dup
ENST00000674301.2:c.*323-1_*332dup
ENST00000682170.1:n.481-1_490dup
ENST00000682767.1:n.106_116dup
ENST00000316623.10:c.6872-1_6881dup
ENST00000674301.1:c.1976-1_1985dup
ENST00000316623.9:c.6872-1_6881dup
ENST00000559133.5:c.2179-1_2188dup
ENST00000560720.1:n.159-1_168dup
NM_000138.4:c.6872-1_6881dup , LRG_778t1:c.6872-1_6881dup
NM_000138.5:c.6872-1_6881dup