Canonical Allele Identifier: CA617832394

Gene: FBN1

Linked Data

• dbSNP Id: rs1376311451
• gnomAD v2: 15-48703641-G-GA
• gnomAD v3: 15-48411444-G-GA
• gnomAD v4: 15-48411444-G-GA
• MyVariant Identifiers: chr15:g.48703641_48703642insA (hg19) ; chr15:g.48411444_48411445insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411450dup , CM000677.2:g.48411450dup	GRCh38
NC_000015.9:g.48703647dup , CM000677.1:g.48703647dup	GRCh37
NC_000015.8:g.46490939dup	NCBI36
NG_008805.2:g.239344dup , LRG_778:g.239344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1035-66dup	ENSP00000453958.2:n.*1035-66dup
ENST00000674301.2:c.*1740-66dup	ENSP00000501333.2:n.*1740-66dup
ENST00000682158.1:n.1608-66dup
ENST00000682170.1:n.2408-66dup
ENST00000682767.1:n.1524-66dup
ENST00000316623.10:c.8227-66dup MANE Select	ENSP00000325527.5:n.8227-66dup
ENST00000674301.1:c.3393-66dup	ENSP00000501333.1:n.3393-66dup
ENST00000316623.9:c.8227-66dup	ENSP00000325527.5:n.8227-66dup
ENST00000559133.5:c.3596-66dup
ENST00000561429.1:n.482-66dup
NM_000138.4:c.8227-66dup , LRG_778t1:c.8227-66dup	NP_000129.3:n.8227-66dup
NM_000138.5:c.8227-66dup MANE Select	NP_000129.3:n.8227-66dup