Canonical Allele Identifier: CA911022171
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1179543225
gnomAD v3: 3-81646542-G-GA
gnomAD v4: 3-81646542-G-GA
MyVariant Identifiers: chr3:g.81695693_81695694insA (hg19) chr3:g.81646542_81646543insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646549dup , CM000665.2:g.81646549dup GRCh38
NC_000003.11:g.81695700dup , CM000665.1:g.81695700dup GRCh37
NC_000003.10:g.81778390dup NCBI36
NG_011810.1:g.120258dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-61dup MANE Select ENSP00000410833.2:n.692-61dup
ENST00000429644.6:c.692-61dup ENSP00000410833.2:n.692-61dup
ENST00000489715.1:c.569-61dup ENSP00000419638.1:n.569-61dup
ENST00000498468.1:n.220-39dup
NM_000158.3:c.692-61dup NP_000149.3:n.692-61dup
NM_000158.4:c.692-61dup MANE Select NP_000149.4:n.692-61dup
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Search 100 bp 3'