Canonical Allele Identifier: CA2577825888

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648782del , CM000665.2:g.81648782del	GRCh38
NC_000003.11:g.81697933del , CM000665.1:g.81697933del	GRCh37
NC_000003.10:g.81780623del	NCBI36
NG_011810.1:g.118020del

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.691+75del MANE Select	ENSP00000410833.2:n.691+75del
ENST00000429644.6:c.691+75del	ENSP00000410833.2:n.691+75del
ENST00000489715.1:c.568+75del	ENSP00000419638.1:n.568+75del
ENST00000498468.1:n.219+75del
NM_000158.3:c.691+75del	NP_000149.3:n.691+75del
NM_000158.4:c.691+75del MANE Select	NP_000149.4:n.691+75del