Canonical Allele Identifier: CA713412299

Gene: FBN1

Linked Data

• dbSNP Id: rs1332526653
• gnomAD v3: 15-48472462-A-AC
• gnomAD v4: 15-48472462-A-AC
• MyVariant Identifiers: chr15:g.48764659_48764660insC (hg19) ; chr15:g.48472462_48472463insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472462_48472463insC , CM000677.2:g.48472462_48472463insC	GRCh38
NC_000015.9:g.48764659_48764660insC , CM000677.1:g.48764659_48764660insC	GRCh37
NC_000015.8:g.46551951_46551952insC	NCBI36
NG_008805.2:g.178326_178327insG , LRG_778:g.178326_178327insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+88_4336+89insG	ENSP00000453958.2:n.4336+88_4336+89insG
ENST00000674301.2:c.4336+88_4336+89insG	ENSP00000501333.2:n.4336+88_4336+89insG
ENST00000683268.1:n.303+88_303+89insG
ENST00000684448.1:n.3010+88_3010+89insG
ENST00000316623.10:c.4336+88_4336+89insG MANE Select	ENSP00000325527.5:n.4336+88_4336+89insG
ENST00000316623.9:c.4336+88_4336+89insG	ENSP00000325527.5:n.4336+88_4336+89insG
ENST00000537463.6:c.*99+88_*99+89insG	ENSP00000440294.2:n.*99+88_*99+89insG
NM_000138.4:c.4336+88_4336+89insG , LRG_778t1:c.4336+88_4336+89insG	NP_000129.3:n.4336+88_4336+89insG
NM_000138.5:c.4336+88_4336+89insG MANE Select	NP_000129.3:n.4336+88_4336+89insG