Canonical Allele Identifier: CA2666624130
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648862-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648865del , CM000665.2:g.81648865del GRCh38
NC_000003.11:g.81698016del , CM000665.1:g.81698016del GRCh37
NC_000003.10:g.81780706del NCBI36
NG_011810.1:g.117938del

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.684del MANE Select ENSP00000410833.2:p.Gly229AlafsTer9
ENST00000429644.6:c.684del ENSP00000410833.2:p.Gly229AlafsTer9
ENST00000489715.1:c.561del ENSP00000419638.1:p.Gly188AlafsTer9
ENST00000498468.1:n.212del
NM_000158.3:c.684del NP_000149.3:p.Gly229AlafsTer9
NM_000158.4:c.684del MANE Select NP_000149.4:p.Gly229AlafsTer9
Search 100 bp 5'
Search 100 bp 3'