Canonical Allele Identifier: CA1378730310

Gene: GBE1

Linked Data

• dbSNP Id: rs1704810483

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649203dup , CM000665.2:g.81649203dup	GRCh38
NC_000003.11:g.81698354dup , CM000665.1:g.81698354dup	GRCh37
NC_000003.10:g.81781044dup	NCBI36
NG_011810.1:g.117599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-211dup MANE Select	ENSP00000410833.2:n.556-211dup
ENST00000429644.6:c.556-211dup	ENSP00000410833.2:n.556-211dup
ENST00000486920.1:n.552-211dup
ENST00000489715.1:c.433-211dup	ENSP00000419638.1:n.433-211dup
ENST00000498468.1:n.84-211dup
NM_000158.3:c.556-211dup	NP_000149.3:n.556-211dup
NM_000158.4:c.556-211dup MANE Select	NP_000149.4:n.556-211dup