Canonical Allele Identifier: CA2666624270

Gene: GBE1

Linked Data

• gnomAD v4: 3-81649140-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649145_81649146del , CM000665.2:g.81649145_81649146del	GRCh38
NC_000003.11:g.81698296_81698297del , CM000665.1:g.81698296_81698297del	GRCh37
NC_000003.10:g.81780986_81780987del	NCBI36
NG_011810.1:g.117659_117660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-151_556-150del MANE Select	ENSP00000410833.2:n.556-151_556-150del
ENST00000429644.6:c.556-151_556-150del	ENSP00000410833.2:n.556-151_556-150del
ENST00000486920.1:n.552-151_552-150del
ENST00000489715.1:c.433-151_433-150del	ENSP00000419638.1:n.433-151_433-150del
ENST00000498468.1:n.84-151_84-150del
NM_000158.3:c.556-151_556-150del	NP_000149.3:n.556-151_556-150del
NM_000158.4:c.556-151_556-150del MANE Select	NP_000149.4:n.556-151_556-150del