Canonical Allele Identifier: CA2666623940

Gene: GBE1

Linked Data

• gnomAD v4: 3-81646537-ATGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646538_81646542del , CM000665.2:g.81646538_81646542del	GRCh38
NC_000003.11:g.81695689_81695693del , CM000665.1:g.81695689_81695693del	GRCh37
NC_000003.10:g.81778379_81778383del	NCBI36
NG_011810.1:g.120259_120263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-60_692-56del MANE Select	ENSP00000410833.2:n.692-60_692-56del
ENST00000429644.6:c.692-60_692-56del	ENSP00000410833.2:n.692-60_692-56del
ENST00000489715.1:c.569-60_569-56del	ENSP00000419638.1:n.569-60_569-56del
ENST00000498468.1:n.220-38_220-34del
NM_000158.3:c.692-60_692-56del	NP_000149.3:n.692-60_692-56del
NM_000158.4:c.692-60_692-56del MANE Select	NP_000149.4:n.692-60_692-56del