Canonical Allele Identifier: CA2525244021

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646531_81646533del , CM000665.2:g.81646531_81646533del	GRCh38
NC_000003.11:g.81695682_81695684del , CM000665.1:g.81695682_81695684del	GRCh37
NC_000003.10:g.81778372_81778374del	NCBI36
NG_011810.1:g.120274_120276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-45_692-43del MANE Select	ENSP00000410833.2:n.692-45_692-43del
ENST00000429644.6:c.692-45_692-43del	ENSP00000410833.2:n.692-45_692-43del
ENST00000489715.1:c.569-45_569-43del	ENSP00000419638.1:n.569-45_569-43del
ENST00000498468.1:n.220-23_220-21del
NM_000158.3:c.692-45_692-43del	NP_000149.3:n.692-45_692-43del
NM_000158.4:c.692-45_692-43del MANE Select	NP_000149.4:n.692-45_692-43del