Canonical Allele Identifier: CA2517575021

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649020dup , CM000665.2:g.81649020dup	GRCh38
NC_000003.11:g.81698171dup , CM000665.1:g.81698171dup	GRCh37
NC_000003.10:g.81780861dup	NCBI36
NG_011810.1:g.117782dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-28dup MANE Select	ENSP00000410833.2:n.556-28dup
ENST00000429644.6:c.556-28dup	ENSP00000410833.2:n.556-28dup
ENST00000486920.1:n.552-28dup
ENST00000489715.1:c.433-28dup	ENSP00000419638.1:n.433-28dup
ENST00000498468.1:n.84-28dup
NM_000158.3:c.556-28dup	NP_000149.3:n.556-28dup
NM_000158.4:c.556-28dup MANE Select	NP_000149.4:n.556-28dup