Canonical Allele Identifier: CA713392425

Gene: FBN1

Linked Data

• dbSNP Id: rs1326776383
• gnomAD v3: 15-48494472-GA-G
• gnomAD v4: 15-48494472-GA-G
• MyVariant Identifiers: chr15:g.48786670del (hg19) ; chr15:g.48494473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494473del , CM000677.2:g.48494473del	GRCh38
NC_000015.9:g.48786670del , CM000677.1:g.48786670del	GRCh37
NC_000015.8:g.46573962del	NCBI36
NG_008805.2:g.156316del , LRG_778:g.156316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2678-219del	ENSP00000453958.2:n.2678-219del
ENST00000674301.2:c.2678-219del	ENSP00000501333.2:n.2678-219del
ENST00000684448.1:n.1352-219del
ENST00000316623.10:c.2678-219del MANE Select	ENSP00000325527.5:n.2678-219del
ENST00000316623.9:c.2678-219del	ENSP00000325527.5:n.2678-219del
ENST00000537463.6:c.637-19823del	ENSP00000440294.2:n.637-19823del
NM_000138.4:c.2678-219del , LRG_778t1:c.2678-219del	NP_000129.3:n.2678-219del
NM_000138.5:c.2678-219del MANE Select	NP_000129.3:n.2678-219del