Canonical Allele Identifier: CA1378729208

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646648_81646651delinsTAAC , CM000665.2:g.81646648_81646651delinsTAAC	GRCh38
NC_000003.11:g.81695799_81695802delinsTAAC , CM000665.1:g.81695799_81695802delinsTAAC	GRCh37
NC_000003.10:g.81778489_81778492delinsTAAC	NCBI36
NG_011810.1:g.120150_120153delinsGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-169_692-166delinsGTTA MANE Select	ENSP00000410833.2:n.692-169_692-166delinsGTTA
ENST00000429644.6:c.692-169_692-166delinsGTTA	ENSP00000410833.2:n.692-169_692-166delinsGTTA
ENST00000489715.1:c.569-169_569-166delinsGTTA	ENSP00000419638.1:n.569-169_569-166delinsGTTA
ENST00000498468.1:n.220-147_220-144delinsGTTA
NM_000158.3:c.692-169_692-166delinsGTTA	NP_000149.3:n.692-169_692-166delinsGTTA
NM_000158.4:c.692-169_692-166delinsGTTA MANE Select	NP_000149.4:n.692-169_692-166delinsGTTA