Canonical Allele Identifier: CA2499885
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs759451512
ExAC: 3:81695675 T / TA
gnomAD v2: 3-81695675-T-TA
gnomAD v3: 3-81646524-T-TA
gnomAD v4: 3-81646524-T-TA
MyVariant Identifiers: chr3:g.81695676_81695677insA (hg19) chr3:g.81695675_81695676insA (hg19) chr3:g.81646525_81646526insA (hg38) chr3:g.81646524_81646525insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646533dup , CM000665.2:g.81646533dup GRCh38
NC_000003.11:g.81695684dup , CM000665.1:g.81695684dup GRCh37
NC_000003.10:g.81778374dup NCBI36
NG_011810.1:g.120276dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-43dup MANE Select ENSP00000410833.2:n.692-43dup
ENST00000429644.6:c.692-43dup ENSP00000410833.2:n.692-43dup
ENST00000489715.1:c.569-43dup ENSP00000419638.1:n.569-43dup
ENST00000498468.1:n.220-21dup
NM_000158.3:c.692-43dup NP_000149.3:n.692-43dup
NM_000158.4:c.692-43dup MANE Select NP_000149.4:n.692-43dup
Search 100 bp 5'
Search 100 bp 3'