Canonical Allele Identifier: CA2756978811

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535421_81535422del , CM000665.2:g.81535421_81535422del	GRCh38
NC_000003.11:g.81584572_81584573del , CM000665.1:g.81584572_81584573del	GRCh37
NC_000003.10:g.81667262_81667263del	NCBI36
NG_011810.1:g.231379_231380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-97_1804-96del MANE Select	ENSP00000410833.2:n.1804-97_1804-96del
ENST00000429644.6:c.1804-97_1804-96del	ENSP00000410833.2:n.1804-97_1804-96del
ENST00000484687.1:n.205-97_205-96del
ENST00000489715.1:c.1681-97_1681-96del	ENSP00000419638.1:n.1681-97_1681-96del
NM_000158.3:c.1804-97_1804-96del	NP_000149.3:n.1804-97_1804-96del
NM_000158.4:c.1804-97_1804-96del MANE Select	NP_000149.4:n.1804-97_1804-96del