Canonical Allele Identifier: CA544277854
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1167941725
gnomAD v2: 3-81695780-AT-A
gnomAD v4: 3-81646629-AT-A
MyVariant Identifiers: chr3:g.81695781del (hg19) chr3:g.81646630del (hg38)
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Genomic Alleles

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

Transcript Alleles

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