Canonical Allele Identifier: CA1378729214

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646666_81646670delinsTCTTA , CM000665.2:g.81646666_81646670delinsTCTTA	GRCh38
NC_000003.11:g.81695817_81695821delinsTCTTA , CM000665.1:g.81695817_81695821delinsTCTTA	GRCh37
NC_000003.10:g.81778507_81778511delinsTCTTA	NCBI36
NG_011810.1:g.120131_120135delinsTAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-188_692-184delinsTAAGA MANE Select	ENSP00000410833.2:n.692-188_692-184delinsTAAGA
ENST00000429644.6:c.692-188_692-184delinsTAAGA	ENSP00000410833.2:n.692-188_692-184delinsTAAGA
ENST00000489715.1:c.569-188_569-184delinsTAAGA	ENSP00000419638.1:n.569-188_569-184delinsTAAGA
ENST00000498468.1:n.220-166_220-162delinsTAAGA
NM_000158.3:c.692-188_692-184delinsTAAGA	NP_000149.3:n.692-188_692-184delinsTAAGA
NM_000158.4:c.692-188_692-184delinsTAAGA MANE Select	NP_000149.4:n.692-188_692-184delinsTAAGA