Canonical Allele Identifier: CA2666624241

Gene: GBE1

Linked Data

• gnomAD v4: 3-81649092-T-TTTACATGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649093_81649094insTACATGCAAT , CM000665.2:g.81649093_81649094insTACATGCAAT	GRCh38
NC_000003.11:g.81698244_81698245insTACATGCAAT , CM000665.1:g.81698244_81698245insTACATGCAAT	GRCh37
NC_000003.10:g.81780934_81780935insTACATGCAAT	NCBI36
NG_011810.1:g.117708_117709insTTGCATGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-102_556-101insTTGCATGTAA MANE Select	ENSP00000410833.2:n.556-102_556-101insTTGCATGTAA
ENST00000429644.6:c.556-102_556-101insTTGCATGTAA	ENSP00000410833.2:n.556-102_556-101insTTGCATGTAA
ENST00000486920.1:n.552-102_552-101insTTGCATGTAA
ENST00000489715.1:c.433-102_433-101insTTGCATGTAA	ENSP00000419638.1:n.433-102_433-101insTTGCATGTAA
ENST00000498468.1:n.84-102_84-101insTTGCATGTAA
NM_000158.3:c.556-102_556-101insTTGCATGTAA	NP_000149.3:n.556-102_556-101insTTGCATGTAA
NM_000158.4:c.556-102_556-101insTTGCATGTAA MANE Select	NP_000149.4:n.556-102_556-101insTTGCATGTAA