Canonical Allele Identifier: CA2666607793

Gene: GBE1

Linked Data

• gnomAD v4: 3-81705567-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705569del , CM000665.2:g.81705569del	GRCh38
NC_000003.11:g.81754720del , CM000665.1:g.81754720del	GRCh37
NC_000003.10:g.81837410del	NCBI36
NG_011810.1:g.61233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.189del MANE Select	ENSP00000410833.2:p.Gly64ValfsTer?
ENST00000429644.6:c.189del	ENSP00000410833.2:p.Gly64ValfsTer?
ENST00000489715.1:c.66del	ENSP00000419638.1:p.Gly23ValfsTer?
NM_000158.3:c.189del	NP_000149.3:p.Gly64ValfsTer?
NM_000158.4:c.189del MANE Select	NP_000149.4:p.Gly64ValfsTer?