Canonical Allele Identifier: CA713412236

Gene: FBN1

Linked Data

• dbSNP Id: rs1245860301
• gnomAD v3: 15-48472455-G-GT
• gnomAD v4: 15-48472455-G-GT
• MyVariant Identifiers: chr15:g.48764652_48764653insT (hg19) ; chr15:g.48472455_48472456insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472458dup , CM000677.2:g.48472458dup	GRCh38
NC_000015.9:g.48764655dup , CM000677.1:g.48764655dup	GRCh37
NC_000015.8:g.46551947dup	NCBI36
NG_008805.2:g.178333dup , LRG_778:g.178333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+95dup	ENSP00000453958.2:n.4336+95dup
ENST00000674301.2:c.4336+95dup	ENSP00000501333.2:n.4336+95dup
ENST00000683268.1:n.303+95dup
ENST00000684448.1:n.3010+95dup
ENST00000316623.10:c.4336+95dup MANE Select	ENSP00000325527.5:n.4336+95dup
ENST00000316623.9:c.4336+95dup	ENSP00000325527.5:n.4336+95dup
ENST00000537463.6:c.*99+95dup	ENSP00000440294.2:n.*99+95dup
NM_000138.4:c.4336+95dup , LRG_778t1:c.4336+95dup	NP_000129.3:n.4336+95dup
NM_000138.5:c.4336+95dup MANE Select	NP_000129.3:n.4336+95dup