Canonical Allele Identifier: CA2577825660

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577891del , CM000665.2:g.81577891del	GRCh38
NC_000003.11:g.81627042del , CM000665.1:g.81627042del	GRCh37
NC_000003.10:g.81709732del	NCBI36
NG_011810.1:g.188912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.1618+36del MANE Select	ENSP00000410833.2:n.1618+36del
ENST00000429644.6:c.1618+36del	ENSP00000410833.2:n.1618+36del
ENST00000484687.1:n.19+36del
ENST00000489715.1:c.1495+36del	ENSP00000419638.1:n.1495+36del
NM_000158.3:c.1618+36del	NP_000149.3:n.1618+36del
NM_000158.4:c.1618+36del MANE Select	NP_000149.4:n.1618+36del