Canonical Allele Identifier: CA2577826002
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705707-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705714del , CM000665.2:g.81705714del GRCh38
NC_000003.11:g.81754865del , CM000665.1:g.81754865del GRCh37
NC_000003.10:g.81837555del NCBI36
NG_011810.1:g.61093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.144-95del MANE Select ENSP00000410833.2:n.144-95del
ENST00000429644.6:c.144-95del ENSP00000410833.2:n.144-95del
ENST00000489715.1:c.21-95del ENSP00000419638.1:n.21-95del
NM_000158.3:c.144-95del NP_000149.3:n.144-95del
NM_000158.4:c.144-95del MANE Select NP_000149.4:n.144-95del
Search 100 bp 5'
Search 100 bp 3'