Canonical Allele Identifier: CA2499216989
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071657
ClinVar RCV Id: RCV001384176 RCV004528497
dbSNP Id: rs2107168870
gnomAD v4: 3-81705540-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705541del , CM000665.2:g.81705541del GRCh38
NC_000003.11:g.81754692del , CM000665.1:g.81754692del GRCh37
NC_000003.10:g.81837382del NCBI36
NG_011810.1:g.61260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.216del MANE Select ENSP00000410833.2:p.Tyr73MetfsTer?
ENST00000429644.6:c.216del ENSP00000410833.2:p.Tyr73MetfsTer?
ENST00000489715.1:c.93del ENSP00000419638.1:p.Tyr32MetfsTer?
NM_000158.3:c.216del NP_000149.3:p.Tyr73MetfsTer?
NM_000158.4:c.216del MANE Select NP_000149.4:p.Tyr73MetfsTer?
Search 100 bp 5'
Search 100 bp 3'