Canonical Allele Identifier: CA269518576

Gene: FBN1

Linked Data

• dbSNP Id: rs879588724
• gnomAD v2: 15-48703061-C-CTT
• gnomAD v3: 15-48410864-C-CTT
• gnomAD v4: 15-48410864-C-CTT
• MyVariant Identifiers: chr15:g.48703061_48703062insTT (hg19) ; chr15:g.48410864_48410865insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48410865_48410866dup , CM000677.2:g.48410865_48410866dup	GRCh38
NC_000015.9:g.48703062_48703063dup , CM000677.1:g.48703062_48703063dup	GRCh37
NC_000015.8:g.46490354_46490355dup	NCBI36
NG_008805.2:g.239923_239924dup , LRG_778:g.239923_239924dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1548_*1549dup	ENSP00000453958.2:n.*1548_*1549dup
ENST00000682158.1:n.2121_2122dup
ENST00000682170.1:n.2921_2922dup
ENST00000682767.1:n.2037_2038dup
ENST00000316623.10:c.*124_*125dup MANE Select	ENSP00000325527.5:n.*124_*125dup
ENST00000316623.9:c.*124_*125dup	ENSP00000325527.5:n.*124_*125dup
ENST00000559133.5:c.4109_4110dup
NM_000138.4:c.*124_*125dup , LRG_778t1:c.*124_*125dup	NP_000129.3:n.*124_*125dup
NM_000138.5:c.*124_*125dup MANE Select	NP_000129.3:n.*124_*125dup