Canonical Allele Identifier: CA2628330270

Gene: FBN1

Linked Data

• gnomAD v4: 15-48487522-T-TGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487523_48487524insGGGG , CM000677.2:g.48487523_48487524insGGGG	GRCh38
NC_000015.9:g.48779720_48779721insGGGG , CM000677.1:g.48779720_48779721insGGGG	GRCh37
NC_000015.8:g.46567012_46567013insGGGG	NCBI36
NG_008805.2:g.163266_163267insCCCC , LRG_778:g.163266_163267insCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-86_3338-85insCCCC	ENSP00000453958.2:n.3338-86_3338-85insCCCC
ENST00000674301.2:c.3338-86_3338-85insCCCC	ENSP00000501333.2:n.3338-86_3338-85insCCCC
ENST00000684448.1:n.2012-86_2012-85insCCCC
ENST00000316623.10:c.3338-86_3338-85insCCCC MANE Select	ENSP00000325527.5:n.3338-86_3338-85insCCCC
ENST00000316623.9:c.3338-86_3338-85insCCCC	ENSP00000325527.5:n.3338-86_3338-85insCCCC
ENST00000537463.6:c.637-12873_637-12872insCCCC	ENSP00000440294.2:n.637-12873_637-12872insCCCC
NM_000138.4:c.3338-86_3338-85insCCCC , LRG_778t1:c.3338-86_3338-85insCCCC	NP_000129.3:n.3338-86_3338-85insCCCC
NM_000138.5:c.3338-86_3338-85insCCCC MANE Select	NP_000129.3:n.3338-86_3338-85insCCCC