Canonical Allele Identifier: CA1378729215

Gene: GBE1

Linked Data

• dbSNP Id: rs1704768536

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646667_81646670del , CM000665.2:g.81646667_81646670del	GRCh38
NC_000003.11:g.81695818_81695821del , CM000665.1:g.81695818_81695821del	GRCh37
NC_000003.10:g.81778508_81778511del	NCBI36
NG_011810.1:g.120131_120134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-188_692-185del MANE Select	ENSP00000410833.2:n.692-188_692-185del
ENST00000429644.6:c.692-188_692-185del	ENSP00000410833.2:n.692-188_692-185del
ENST00000489715.1:c.569-188_569-185del	ENSP00000419638.1:n.569-188_569-185del
ENST00000498468.1:n.220-166_220-163del
NM_000158.3:c.692-188_692-185del	NP_000149.3:n.692-188_692-185del
NM_000158.4:c.692-188_692-185del MANE Select	NP_000149.4:n.692-188_692-185del