Canonical Allele Identifier: CA1378729209

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646662_81646663delinsAG , CM000665.2:g.81646662_81646663delinsAG	GRCh38
NC_000003.11:g.81695813_81695814delinsAG , CM000665.1:g.81695813_81695814delinsAG	GRCh37
NC_000003.10:g.81778503_81778504delinsAG	NCBI36
NG_011810.1:g.120138_120139delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-181_692-180delinsCT MANE Select	ENSP00000410833.2:n.692-181_692-180delinsCT
ENST00000429644.6:c.692-181_692-180delinsCT	ENSP00000410833.2:n.692-181_692-180delinsCT
ENST00000489715.1:c.569-181_569-180delinsCT	ENSP00000419638.1:n.569-181_569-180delinsCT
ENST00000498468.1:n.220-159_220-158delinsCT
NM_000158.3:c.692-181_692-180delinsCT	NP_000149.3:n.692-181_692-180delinsCT
NM_000158.4:c.692-181_692-180delinsCT MANE Select	NP_000149.4:n.692-181_692-180delinsCT