Canonical Allele Identifier: CA1378729135

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646496_81646497delinsTG , CM000665.2:g.81646496_81646497delinsTG	GRCh38
NC_000003.11:g.81695647_81695648delinsTG , CM000665.1:g.81695647_81695648delinsTG	GRCh37
NC_000003.10:g.81778337_81778338delinsTG	NCBI36
NG_011810.1:g.120304_120305delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-15_692-14delinsCA MANE Select	ENSP00000410833.2:n.692-15_692-14delinsCA
ENST00000429644.6:c.692-15_692-14delinsCA	ENSP00000410833.2:n.692-15_692-14delinsCA
ENST00000489715.1:c.569-15_569-14delinsCA	ENSP00000419638.1:n.569-15_569-14delinsCA
ENST00000498468.1:n.227_228delinsCA
NM_000158.3:c.692-15_692-14delinsCA	NP_000149.3:n.692-15_692-14delinsCA
NM_000158.4:c.692-15_692-14delinsCA MANE Select	NP_000149.4:n.692-15_692-14delinsCA