Canonical Allele Identifier: CA2499613
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs762958636
ExAC: 3:81627052 CA / C
gnomAD v2: 3-81627052-CA-C
gnomAD v4: 3-81577901-CA-C
MyVariant Identifiers: chr3:g.81627053del (hg19) chr3:g.81577902del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577902del , CM000665.2:g.81577902del GRCh38
NC_000003.11:g.81627053del , CM000665.1:g.81627053del GRCh37
NC_000003.10:g.81709743del NCBI36
NG_011810.1:g.188899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1618+23del MANE Select ENSP00000410833.2:n.1618+23del
ENST00000429644.6:c.1618+23del ENSP00000410833.2:n.1618+23del
ENST00000484687.1:n.19+23del
ENST00000489715.1:c.1495+23del ENSP00000419638.1:n.1495+23del
NM_000158.3:c.1618+23del NP_000149.3:n.1618+23del
NM_000158.4:c.1618+23del MANE Select NP_000149.4:n.1618+23del
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