Canonical Allele Identifier: CA2666623889
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646432-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646434del , CM000665.2:g.81646434del GRCh38
NC_000003.11:g.81695585del , CM000665.1:g.81695585del GRCh37
NC_000003.10:g.81778275del NCBI36
NG_011810.1:g.120368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.741del MANE Select ENSP00000410833.2:p.Ser248AlafsTer26
ENST00000429644.6:c.741del ENSP00000410833.2:p.Ser248AlafsTer26
ENST00000489715.1:c.618del ENSP00000419638.1:p.Ser207AlafsTer26
ENST00000498468.1:n.291del
NM_000158.3:c.741del NP_000149.3:p.Ser248AlafsTer26
NM_000158.4:c.741del MANE Select NP_000149.4:p.Ser248AlafsTer26
Search 100 bp 5'
Search 100 bp 3'