Canonical Allele Identifier: CA1378679317

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535479_81535483delinsCCTAA , CM000665.2:g.81535479_81535483delinsCCTAA	GRCh38
NC_000003.11:g.81584630_81584634delinsCCTAA , CM000665.1:g.81584630_81584634delinsCCTAA	GRCh37
NC_000003.10:g.81667320_81667324delinsCCTAA	NCBI36
NG_011810.1:g.231318_231322delinsTTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-158_1804-154delinsTTAGG MANE Select	ENSP00000410833.2:n.1804-158_1804-154delinsTTAGG
ENST00000429644.6:c.1804-158_1804-154delinsTTAGG	ENSP00000410833.2:n.1804-158_1804-154delinsTTAGG
ENST00000484687.1:n.205-158_205-154delinsTTAGG
ENST00000489715.1:c.1681-158_1681-154delinsTTAGG	ENSP00000419638.1:n.1681-158_1681-154delinsTTAGG
NM_000158.3:c.1804-158_1804-154delinsTTAGG	NP_000149.3:n.1804-158_1804-154delinsTTAGG
NM_000158.4:c.1804-158_1804-154delinsTTAGG MANE Select	NP_000149.4:n.1804-158_1804-154delinsTTAGG