Canonical Allele Identifier: CA1378730276

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649111_81649112delinsTA , CM000665.2:g.81649111_81649112delinsTA	GRCh38
NC_000003.11:g.81698262_81698263delinsTA , CM000665.1:g.81698262_81698263delinsTA	GRCh37
NC_000003.10:g.81780952_81780953delinsTA	NCBI36
NG_011810.1:g.117689_117690delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-121_556-120delinsTA MANE Select	ENSP00000410833.2:n.556-121_556-120delinsTA
ENST00000429644.6:c.556-121_556-120delinsTA	ENSP00000410833.2:n.556-121_556-120delinsTA
ENST00000486920.1:n.552-121_552-120delinsTA
ENST00000489715.1:c.433-121_433-120delinsTA	ENSP00000419638.1:n.433-121_433-120delinsTA
ENST00000498468.1:n.84-121_84-120delinsTA
NM_000158.3:c.556-121_556-120delinsTA	NP_000149.3:n.556-121_556-120delinsTA
NM_000158.4:c.556-121_556-120delinsTA MANE Select	NP_000149.4:n.556-121_556-120delinsTA