Canonical Allele Identifier: CA1378729174

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646578_81646582delinsTACAA , CM000665.2:g.81646578_81646582delinsTACAA	GRCh38
NC_000003.11:g.81695729_81695733delinsTACAA , CM000665.1:g.81695729_81695733delinsTACAA	GRCh37
NC_000003.10:g.81778419_81778423delinsTACAA	NCBI36
NG_011810.1:g.120219_120223delinsTTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-100_692-96delinsTTGTA MANE Select	ENSP00000410833.2:n.692-100_692-96delinsTTGTA
ENST00000429644.6:c.692-100_692-96delinsTTGTA	ENSP00000410833.2:n.692-100_692-96delinsTTGTA
ENST00000489715.1:c.569-100_569-96delinsTTGTA	ENSP00000419638.1:n.569-100_569-96delinsTTGTA
ENST00000498468.1:n.220-78_220-74delinsTTGTA
NM_000158.3:c.692-100_692-96delinsTTGTA	NP_000149.3:n.692-100_692-96delinsTTGTA
NM_000158.4:c.692-100_692-96delinsTTGTA MANE Select	NP_000149.4:n.692-100_692-96delinsTTGTA