Canonical Allele Identifier: CA911022243
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1167941725
gnomAD v3: 3-81646629-A-AT
gnomAD v4: 3-81646629-A-AT
MyVariant Identifiers: chr3:g.81695780_81695781insT (hg19) chr3:g.81646629_81646630insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646636dup , CM000665.2:g.81646636dup GRCh38
NC_000003.11:g.81695787dup , CM000665.1:g.81695787dup GRCh37
NC_000003.10:g.81778477dup NCBI36
NG_011810.1:g.120171dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-148dup MANE Select ENSP00000410833.2:n.692-148dup
ENST00000429644.6:c.692-148dup ENSP00000410833.2:n.692-148dup
ENST00000489715.1:c.569-148dup ENSP00000419638.1:n.569-148dup
ENST00000498468.1:n.220-126dup
NM_000158.3:c.692-148dup NP_000149.3:n.692-148dup
NM_000158.4:c.692-148dup MANE Select NP_000149.4:n.692-148dup
Search 100 bp 5'
Search 100 bp 3'