Canonical Allele Identifier: CA2666624049

Gene: GBE1

Linked Data

• gnomAD v4: 3-81648780-C-CTTGTAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648782_81648788dup , CM000665.2:g.81648782_81648788dup	GRCh38
NC_000003.11:g.81697933_81697939dup , CM000665.1:g.81697933_81697939dup	GRCh37
NC_000003.10:g.81780623_81780629dup	NCBI36
NG_011810.1:g.118014_118020dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000429644.7:c.691+69_691+75dup MANE Select	ENSP00000410833.2:n.691+69_691+75dup
ENST00000429644.6:c.691+69_691+75dup	ENSP00000410833.2:n.691+69_691+75dup
ENST00000489715.1:c.568+69_568+75dup	ENSP00000419638.1:n.568+69_568+75dup
ENST00000498468.1:n.219+69_219+75dup
NM_000158.3:c.691+69_691+75dup	NP_000149.3:n.691+69_691+75dup
NM_000158.4:c.691+69_691+75dup MANE Select	NP_000149.4:n.691+69_691+75dup