Canonical Allele Identifier: CA713387521

Gene: FBN1

Linked Data

• dbSNP Id: rs1195803916
• gnomAD v3: 15-48422373-A-AT
• gnomAD v4: 15-48422373-A-AT
• MyVariant Identifiers: chr15:g.48714570_48714571insT (hg19) ; chr15:g.48422373_48422374insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422377dup , CM000677.2:g.48422377dup	GRCh38
NC_000015.9:g.48714574dup , CM000677.1:g.48714574dup	GRCh37
NC_000015.8:g.46501866dup	NCBI36
NG_008805.2:g.228415dup , LRG_778:g.228415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-306dup	ENSP00000453958.2:n.*262-306dup
ENST00000674301.2:c.*967-306dup	ENSP00000501333.2:n.*967-306dup
ENST00000682170.1:n.1635-306dup
ENST00000682767.1:n.751-306dup
ENST00000316623.10:c.7454-306dup MANE Select	ENSP00000325527.5:n.7454-306dup
ENST00000674301.1:c.2620-306dup	ENSP00000501333.1:n.2620-306dup
ENST00000316623.9:c.7454-306dup	ENSP00000325527.5:n.7454-306dup
ENST00000559133.5:c.2823-306dup
NM_000138.4:c.7454-306dup , LRG_778t1:c.7454-306dup	NP_000129.3:n.7454-306dup
NM_000138.5:c.7454-306dup MANE Select	NP_000129.3:n.7454-306dup