Canonical Allele Identifier: CA1378679278

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535374_81535380delinsCTACAAG , CM000665.2:g.81535374_81535380delinsCTACAAG	GRCh38
NC_000003.11:g.81584525_81584531delinsCTACAAG , CM000665.1:g.81584525_81584531delinsCTACAAG	GRCh37
NC_000003.10:g.81667215_81667221delinsCTACAAG	NCBI36
NG_011810.1:g.231421_231427delinsCTTGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-55_1804-49delinsCTTGTAG MANE Select	ENSP00000410833.2:n.1804-55_1804-49delinsCTTGTAG
ENST00000429644.6:c.1804-55_1804-49delinsCTTGTAG	ENSP00000410833.2:n.1804-55_1804-49delinsCTTGTAG
ENST00000484687.1:n.205-55_205-49delinsCTTGTAG
ENST00000489715.1:c.1681-55_1681-49delinsCTTGTAG	ENSP00000419638.1:n.1681-55_1681-49delinsCTTGTAG
NM_000158.3:c.1804-55_1804-49delinsCTTGTAG	NP_000149.3:n.1804-55_1804-49delinsCTTGTAG
NM_000158.4:c.1804-55_1804-49delinsCTTGTAG MANE Select	NP_000149.4:n.1804-55_1804-49delinsCTTGTAG