Canonical Allele Identifier: CA2628334978

Gene: FBN1

Linked Data

• gnomAD v4: 15-48494327-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494327_48494328insC , CM000677.2:g.48494327_48494328insC	GRCh38
NC_000015.9:g.48786524_48786525insC , CM000677.1:g.48786524_48786525insC	GRCh37
NC_000015.8:g.46573816_46573817insC	NCBI36
NG_008805.2:g.156461_156462insG , LRG_778:g.156461_156462insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2678-74_2678-73insG	ENSP00000453958.2:n.2678-74_2678-73insG
ENST00000674301.2:c.2678-74_2678-73insG	ENSP00000501333.2:n.2678-74_2678-73insG
ENST00000684448.1:n.1352-74_1352-73insG
ENST00000316623.10:c.2678-74_2678-73insG MANE Select	ENSP00000325527.5:n.2678-74_2678-73insG
ENST00000316623.9:c.2678-74_2678-73insG	ENSP00000325527.5:n.2678-74_2678-73insG
ENST00000537463.6:c.637-19678_637-19677insG	ENSP00000440294.2:n.637-19678_637-19677insG
NM_000138.4:c.2678-74_2678-73insG , LRG_778t1:c.2678-74_2678-73insG	NP_000129.3:n.2678-74_2678-73insG
NM_000138.5:c.2678-74_2678-73insG MANE Select	NP_000129.3:n.2678-74_2678-73insG