Canonical Allele Identifier: CA2666623993

Gene: GBE1

Linked Data

• gnomAD v4: 3-81646640-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646641dup , CM000665.2:g.81646641dup	GRCh38
NC_000003.11:g.81695792dup , CM000665.1:g.81695792dup	GRCh37
NC_000003.10:g.81778482dup	NCBI36
NG_011810.1:g.120160dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-159dup MANE Select	ENSP00000410833.2:n.692-159dup
ENST00000429644.6:c.692-159dup	ENSP00000410833.2:n.692-159dup
ENST00000489715.1:c.569-159dup	ENSP00000419638.1:n.569-159dup
ENST00000498468.1:n.220-137dup
NM_000158.3:c.692-159dup	NP_000149.3:n.692-159dup
NM_000158.4:c.692-159dup MANE Select	NP_000149.4:n.692-159dup