Canonical Allele Identifier: CA2666623910

Gene: GBE1

Linked Data

• gnomAD v4: 3-81646503-A-ATCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646505_81646506insCTGTC , CM000665.2:g.81646505_81646506insCTGTC	GRCh38
NC_000003.11:g.81695656_81695657insCTGTC , CM000665.1:g.81695656_81695657insCTGTC	GRCh37
NC_000003.10:g.81778346_81778347insCTGTC	NCBI36
NG_011810.1:g.120297_120298insCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-22_692-21insCAGGA MANE Select	ENSP00000410833.2:n.692-22_692-21insCAGGA
ENST00000429644.6:c.692-22_692-21insCAGGA	ENSP00000410833.2:n.692-22_692-21insCAGGA
ENST00000489715.1:c.569-22_569-21insCAGGA	ENSP00000419638.1:n.569-22_569-21insCAGGA
ENST00000498468.1:n.220_221insCAGGA
NM_000158.3:c.692-22_692-21insCAGGA	NP_000149.3:n.692-22_692-21insCAGGA
NM_000158.4:c.692-22_692-21insCAGGA MANE Select	NP_000149.4:n.692-22_692-21insCAGGA