Canonical Allele Identifier: CA2175526422

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494472_48494473delinsGA , CM000677.2:g.48494472_48494473delinsGA	GRCh38
NC_000015.9:g.48786669_48786670delinsGA , CM000677.1:g.48786669_48786670delinsGA	GRCh37
NC_000015.8:g.46573961_46573962delinsGA	NCBI36
NG_008805.2:g.156316_156317delinsTC , LRG_778:g.156316_156317delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2678-219_2678-218delinsTC	ENSP00000453958.2:n.2678-219_2678-218delinsTC
ENST00000674301.2:c.2678-219_2678-218delinsTC	ENSP00000501333.2:n.2678-219_2678-218delinsTC
ENST00000684448.1:n.1352-219_1352-218delinsTC
ENST00000316623.10:c.2678-219_2678-218delinsTC MANE Select	ENSP00000325527.5:n.2678-219_2678-218delinsTC
ENST00000316623.9:c.2678-219_2678-218delinsTC	ENSP00000325527.5:n.2678-219_2678-218delinsTC
ENST00000537463.6:c.637-19823_637-19822delinsTC	ENSP00000440294.2:n.637-19823_637-19822delinsTC
NM_000138.4:c.2678-219_2678-218delinsTC , LRG_778t1:c.2678-219_2678-218delinsTC	NP_000129.3:n.2678-219_2678-218delinsTC
NM_000138.5:c.2678-219_2678-218delinsTC MANE Select	NP_000129.3:n.2678-219_2678-218delinsTC