Canonical Allele Identifier: CA1378730296

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649165_81649177delinsTCCTGCTAGTGGA , CM000665.2:g.81649165_81649177delinsTCCTGCTAGTGGA	GRCh38
NC_000003.11:g.81698316_81698328delinsTCCTGCTAGTGGA , CM000665.1:g.81698316_81698328delinsTCCTGCTAGTGGA	GRCh37
NC_000003.10:g.81781006_81781018delinsTCCTGCTAGTGGA	NCBI36
NG_011810.1:g.117624_117636delinsTCCACTAGCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-186_556-174delinsTCCACTAGCAGGA MANE Select	ENSP00000410833.2:n.556-186_556-174delinsTCCACTAGCAGGA
ENST00000429644.6:c.556-186_556-174delinsTCCACTAGCAGGA	ENSP00000410833.2:n.556-186_556-174delinsTCCACTAGCAGGA
ENST00000486920.1:n.552-186_552-174delinsTCCACTAGCAGGA
ENST00000489715.1:c.433-186_433-174delinsTCCACTAGCAGGA	ENSP00000419638.1:n.433-186_433-174delinsTCCACTAGCAGGA
ENST00000498468.1:n.84-186_84-174delinsTCCACTAGCAGGA
NM_000158.3:c.556-186_556-174delinsTCCACTAGCAGGA	NP_000149.3:n.556-186_556-174delinsTCCACTAGCAGGA
NM_000158.4:c.556-186_556-174delinsTCCACTAGCAGGA MANE Select	NP_000149.4:n.556-186_556-174delinsTCCACTAGCAGGA