Canonical Allele Identifier: CA1378729201

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646629_81646630delinsAT , CM000665.2:g.81646629_81646630delinsAT	GRCh38
NC_000003.11:g.81695780_81695781delinsAT , CM000665.1:g.81695780_81695781delinsAT	GRCh37
NC_000003.10:g.81778470_81778471delinsAT	NCBI36
NG_011810.1:g.120171_120172delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-148_692-147delinsAT MANE Select	ENSP00000410833.2:n.692-148_692-147delinsAT
ENST00000429644.6:c.692-148_692-147delinsAT	ENSP00000410833.2:n.692-148_692-147delinsAT
ENST00000489715.1:c.569-148_569-147delinsAT	ENSP00000419638.1:n.569-148_569-147delinsAT
ENST00000498468.1:n.220-126_220-125delinsAT
NM_000158.3:c.692-148_692-147delinsAT	NP_000149.3:n.692-148_692-147delinsAT
NM_000158.4:c.692-148_692-147delinsAT MANE Select	NP_000149.4:n.692-148_692-147delinsAT