Canonical Allele Identifier: CA618009264

Gene: FBN1

Linked Data

• ClinVar Variation Id: 3234776
• ClinVar RCV Id: RCV004547124
• dbSNP Id: rs1566910240
• gnomAD v2: 15-48782042-T-TA
• gnomAD v4: 15-48489845-T-TA
• MyVariant Identifiers: chr15:g.48782042_48782043insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489845_48489846insA , CM000677.2:g.48489845_48489846insA	GRCh38
NC_000015.9:g.48782042_48782043insA , CM000677.1:g.48782042_48782043insA	GRCh37
NC_000015.8:g.46569334_46569335insA	NCBI36
NG_008805.2:g.160943_160944insT , LRG_778:g.160943_160944insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+5_3082+6insT	ENSP00000453958.2:n.3082+5_3082+6insT
ENST00000674301.2:c.3082+5_3082+6insT	ENSP00000501333.2:n.3082+5_3082+6insT
ENST00000684448.1:n.1756+5_1756+6insT
ENST00000316623.10:c.3082+5_3082+6insT MANE Select	ENSP00000325527.5:n.3082+5_3082+6insT
ENST00000316623.9:c.3082+5_3082+6insT	ENSP00000325527.5:n.3082+5_3082+6insT
ENST00000537463.6:c.637-15196_637-15195insT	ENSP00000440294.2:n.637-15196_637-15195insT
NM_000138.4:c.3082+5_3082+6insT , LRG_778t1:c.3082+5_3082+6insT	NP_000129.3:n.3082+5_3082+6insT
NM_000138.5:c.3082+5_3082+6insT MANE Select	NP_000129.3:n.3082+5_3082+6insT