Canonical Allele Identifier: CA1378730286

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649134_81649135delinsTA , CM000665.2:g.81649134_81649135delinsTA	GRCh38
NC_000003.11:g.81698285_81698286delinsTA , CM000665.1:g.81698285_81698286delinsTA	GRCh37
NC_000003.10:g.81780975_81780976delinsTA	NCBI36
NG_011810.1:g.117666_117667delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-144_556-143delinsTA MANE Select	ENSP00000410833.2:n.556-144_556-143delinsTA
ENST00000429644.6:c.556-144_556-143delinsTA	ENSP00000410833.2:n.556-144_556-143delinsTA
ENST00000486920.1:n.552-144_552-143delinsTA
ENST00000489715.1:c.433-144_433-143delinsTA	ENSP00000419638.1:n.433-144_433-143delinsTA
ENST00000498468.1:n.84-144_84-143delinsTA
NM_000158.3:c.556-144_556-143delinsTA	NP_000149.3:n.556-144_556-143delinsTA
NM_000158.4:c.556-144_556-143delinsTA MANE Select	NP_000149.4:n.556-144_556-143delinsTA