Canonical Allele Identifier: CA2573150789

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1453066
• ClinVar RCV Id: RCV001994715
• dbSNP Id: rs2141289577

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483840del , CM000677.2:g.48483840del	GRCh38
NC_000015.9:g.48776037del , CM000677.1:g.48776037del	GRCh37
NC_000015.8:g.46563329del	NCBI36
NG_008805.2:g.166949del , LRG_778:g.166949del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3816del	ENSP00000453958.2:p.Glu1273LysfsTer3
ENST00000674301.2:c.3816del	ENSP00000501333.2:p.Glu1273LysfsTer3
ENST00000684448.1:n.2490del
ENST00000316623.10:c.3816del MANE Select	ENSP00000325527.5:p.Glu1273LysfsTer3
ENST00000316623.9:c.3816del	ENSP00000325527.5:p.Glu1273LysfsTer3
ENST00000537463.6:c.637-9190del	ENSP00000440294.2:n.637-9190del
NM_000138.4:c.3816del , LRG_778t1:c.3816del	NP_000129.3:p.Glu1273LysfsTer3
NM_000138.5:c.3816del MANE Select	NP_000129.3:p.Glu1273LysfsTer3