Canonical Allele Identifier: CA713390759

Gene: FBN1

Linked Data

• dbSNP Id: rs1438905292
• gnomAD v4: 15-48427471-G-GGCA
• MyVariant Identifiers: chr15:g.48719668_48719669insGCA (hg19) ; chr15:g.48427471_48427472insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48427472_48427474dup , CM000677.2:g.48427472_48427474dup	GRCh38
NC_000015.9:g.48719669_48719671dup , CM000677.1:g.48719669_48719671dup	GRCh37
NC_000015.8:g.46506961_46506963dup	NCBI36
NG_008805.2:g.223315_223317dup , LRG_778:g.223315_223317dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*12+93_*12+95dup	ENSP00000453958.2:n.*12+93_*12+95dup
ENST00000674301.2:c.*717+93_*717+95dup	ENSP00000501333.2:n.*717+93_*717+95dup
ENST00000682170.1:n.1385+93_1385+95dup
ENST00000682767.1:n.501+93_501+95dup
ENST00000316623.10:c.7204+93_7204+95dup MANE Select	ENSP00000325527.5:n.7204+93_7204+95dup
ENST00000674301.1:c.2370+93_2370+95dup	ENSP00000501333.1:n.2370+93_2370+95dup
ENST00000316623.9:c.7204+93_7204+95dup	ENSP00000325527.5:n.7204+93_7204+95dup
ENST00000559133.5:c.2573+93_2573+95dup
NM_000138.4:c.7204+93_7204+95dup , LRG_778t1:c.7204+93_7204+95dup	NP_000129.3:n.7204+93_7204+95dup
NM_000138.5:c.7204+93_7204+95dup MANE Select	NP_000129.3:n.7204+93_7204+95dup