Canonical Allele Identifier: CA2571819445

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705625_81705626insGTAA , CM000665.2:g.81705625_81705626insGTAA	GRCh38
NC_000003.11:g.81754776_81754777insGTAA , CM000665.1:g.81754776_81754777insGTAA	GRCh37
NC_000003.10:g.81837466_81837467insGTAA	NCBI36
NG_011810.1:g.61175_61176insTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.144-13_144-12insTTAC MANE Select	ENSP00000410833.2:n.144-13_144-12insTTAC
ENST00000429644.6:c.144-13_144-12insTTAC	ENSP00000410833.2:n.144-13_144-12insTTAC
ENST00000489715.1:c.21-13_21-12insTTAC	ENSP00000419638.1:n.21-13_21-12insTTAC
NM_000158.3:c.144-13_144-12insTTAC	NP_000149.3:n.144-13_144-12insTTAC
NM_000158.4:c.144-13_144-12insTTAC MANE Select	NP_000149.4:n.144-13_144-12insTTAC