Canonical Allele Identifier: CA915946623

Gene: FBN1

Linked Data

• ClinVar Variation Id: 660091
• ClinVar RCV Id: RCV000817219
• dbSNP Id: rs1597509607

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415586_48415603del , CM000677.2:g.48415586_48415603del	GRCh38
NC_000015.9:g.48707783_48707800del , CM000677.1:g.48707783_48707800del	GRCh37
NC_000015.8:g.46495075_46495092del	NCBI36
NG_008805.2:g.235189_235206del , LRG_778:g.235189_235206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*795_*812del	ENSP00000453958.2:n.*795_*812del
ENST00000674301.2:c.*1500_*1517del	ENSP00000501333.2:n.*1500_*1517del
ENST00000682158.1:n.1368_1385del
ENST00000682170.1:n.2168_2185del
ENST00000682767.1:n.1284_1301del
ENST00000316623.10:c.7987_8004del MANE Select	ENSP00000325527.5:p.Cys2663_Gly2668del
ENST00000674301.1:c.3153_3170del	ENSP00000501333.1:n.3153_3170del
ENST00000316623.9:c.7987_8004del	ENSP00000325527.5:p.Cys2663_Gly2668del
ENST00000559133.5:c.3356_3373del
ENST00000561429.1:n.242_259del
NM_000138.4:c.7987_8004del , LRG_778t1:c.7987_8004del	NP_000129.3:p.Cys2663_Gly2668del
NM_000138.5:c.7987_8004del MANE Select	NP_000129.3:p.Cys2663_Gly2668del