Canonical Allele Identifier: CA2577825852
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646296del , CM000665.2:g.81646296del GRCh38
NC_000003.11:g.81695447del , CM000665.1:g.81695447del GRCh37
NC_000003.10:g.81778137del NCBI36
NG_011810.1:g.120508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.782+99del MANE Select ENSP00000410833.2:n.782+99del
ENST00000429644.6:c.782+99del ENSP00000410833.2:n.782+99del
ENST00000489715.1:c.659+99del ENSP00000419638.1:n.659+99del
ENST00000498468.1:n.332+99del
NM_000158.3:c.782+99del NP_000149.3:n.782+99del
NM_000158.4:c.782+99del MANE Select NP_000149.4:n.782+99del