Canonical Allele Identifier: CA911023477
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1451489424
gnomAD v3: 3-81648773-AG-A
gnomAD v4: 3-81648773-AG-A
MyVariant Identifiers: chr3:g.81697925del (hg19) chr3:g.81648774del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648774del , CM000665.2:g.81648774del GRCh38
NC_000003.11:g.81697925del , CM000665.1:g.81697925del GRCh37
NC_000003.10:g.81780615del NCBI36
NG_011810.1:g.118027del

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+82del MANE Select ENSP00000410833.2:n.691+82del
ENST00000429644.6:c.691+82del ENSP00000410833.2:n.691+82del
ENST00000489715.1:c.568+82del ENSP00000419638.1:n.568+82del
ENST00000498468.1:n.219+82del
NM_000158.3:c.691+82del NP_000149.3:n.691+82del
NM_000158.4:c.691+82del MANE Select NP_000149.4:n.691+82del
Search 100 bp 5'
Search 100 bp 3'