Canonical Allele Identifier: CA2756978720

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705701_81705707del , CM000665.2:g.81705701_81705707del	GRCh38
NC_000003.11:g.81754852_81754858del , CM000665.1:g.81754852_81754858del	GRCh37
NC_000003.10:g.81837542_81837548del	NCBI36
NG_011810.1:g.61094_61100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.144-94_144-88del MANE Select	ENSP00000410833.2:n.144-94_144-88del
ENST00000429644.6:c.144-94_144-88del	ENSP00000410833.2:n.144-94_144-88del
ENST00000489715.1:c.21-94_21-88del	ENSP00000419638.1:n.21-94_21-88del
NM_000158.3:c.144-94_144-88del	NP_000149.3:n.144-94_144-88del
NM_000158.4:c.144-94_144-88del MANE Select	NP_000149.4:n.144-94_144-88del