Canonical Allele Identifier: CA2740094516
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2952729
ClinVar RCV Id: RCV003817863
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705584_81705585del , CM000665.2:g.81705584_81705585del GRCh38
NC_000003.11:g.81754735_81754736del , CM000665.1:g.81754735_81754736del GRCh37
NC_000003.10:g.81837425_81837426del NCBI36
NG_011810.1:g.61216_61217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.172_173del MANE Select ENSP00000410833.2:p.Asn58HisfsTer5
ENST00000429644.6:c.172_173del ENSP00000410833.2:p.Asn58HisfsTer5
ENST00000489715.1:c.49_50del ENSP00000419638.1:p.Asn17HisfsTer5
NM_000158.3:c.172_173del NP_000149.3:p.Asn58HisfsTer5
NM_000158.4:c.172_173del MANE Select NP_000149.4:p.Asn58HisfsTer5
Search 100 bp 5'
Search 100 bp 3'