Canonical Allele Identifier: CA2666607786
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705442del , CM000665.2:g.81705442del GRCh38
NC_000003.11:g.81754593del , CM000665.1:g.81754593del GRCh37
NC_000003.10:g.81837283del NCBI36
NG_011810.1:g.61359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.313+2del MANE Select ENSP00000410833.2:n.313+2del
ENST00000429644.6:c.313+2del ENSP00000410833.2:n.313+2del
ENST00000489715.1:c.190+2del ENSP00000419638.1:n.190+2del
NM_000158.3:c.313+2del NP_000149.3:n.313+2del
NM_000158.4:c.313+2del MANE Select NP_000149.4:n.313+2del