Canonical Allele Identifier: CA658824925

Gene: FBN1

Linked Data

• ClinVar Variation Id: 560345
• ClinVar RCV Id: RCV000678444
• dbSNP Id: rs1566894226
• MyVariant Identifiers: chr15:g.48722868_48722999del (hg19) ; chr15:g.48430671_48430802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48430673_48430804del , CM000677.2:g.48430673_48430804del	GRCh38
NC_000015.9:g.48722870_48723001del , CM000677.1:g.48722870_48723001del	GRCh37
NC_000015.8:g.46510162_46510293del	NCBI36
NG_008805.2:g.219987_220118del , LRG_778:g.219987_220118del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6740_6871del
ENST00000674301.2:c.*191_*322del
ENST00000682170.1:n.349_480del
ENST00000316623.10:c.6740_6871del
ENST00000674301.1:c.1844_1975del
ENST00000316623.9:c.6740_6871del
ENST00000559133.5:c.2047_2178del
ENST00000560720.1:n.27_158del
NM_000138.4:c.6740_6871del , LRG_778t1:c.6740_6871del
NM_000138.5:c.6740_6871del