Canonical Allele Identifier: CA618009241

Gene: FBN1

Linked Data

• dbSNP Id: rs1358566063
• gnomAD v2: 15-48759973-G-GTCCC
• gnomAD v3: 15-48467776-G-GTCCC
• gnomAD v4: 15-48467776-G-GTCCC
• MyVariant Identifiers: chr15:g.48759973_48759974insTCCC (hg19) ; chr15:g.48467776_48467777insTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48467776_48467777insTCCC , CM000677.2:g.48467776_48467777insTCCC	GRCh38
NC_000015.9:g.48759973_48759974insTCCC , CM000677.1:g.48759973_48759974insTCCC	GRCh37
NC_000015.8:g.46547265_46547266insTCCC	NCBI36
NG_008805.2:g.183012_183013insGGGA , LRG_778:g.183012_183013insGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4747+161_4747+162insGGGA	ENSP00000453958.2:n.4747+161_4747+162insGGGA
ENST00000674301.2:c.4747+161_4747+162insGGGA	ENSP00000501333.2:n.4747+161_4747+162insGGGA
ENST00000684448.1:n.3421+161_3421+162insGGGA
ENST00000316623.10:c.4747+161_4747+162insGGGA MANE Select	ENSP00000325527.5:n.4747+161_4747+162insGGGA
ENST00000316623.9:c.4747+161_4747+162insGGGA	ENSP00000325527.5:n.4747+161_4747+162insGGGA
ENST00000537463.6:c.*510+161_*510+162insGGGA	ENSP00000440294.2:n.*510+161_*510+162insGGGA
ENST00000559133.5:c.54+161_54+162insGGGA
NM_000138.4:c.4747+161_4747+162insGGGA , LRG_778t1:c.4747+161_4747+162insGGGA	NP_000129.3:n.4747+161_4747+162insGGGA
NM_000138.5:c.4747+161_4747+162insGGGA MANE Select	NP_000129.3:n.4747+161_4747+162insGGGA