Canonical Allele Identifier: CA544277872
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1270814980
gnomAD v2: 3-81695799-TAAC-T
gnomAD v3: 3-81646648-TAAC-T
gnomAD v4: 3-81646648-TAAC-T
MyVariant Identifiers: chr3:g.81695800_81695802del (hg19) chr3:g.81646649_81646651del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646653_81646655del , CM000665.2:g.81646653_81646655del GRCh38
NC_000003.11:g.81695804_81695806del , CM000665.1:g.81695804_81695806del GRCh37
NC_000003.10:g.81778494_81778496del NCBI36
NG_011810.1:g.120150_120152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-169_692-167del MANE Select ENSP00000410833.2:n.692-169_692-167del
ENST00000429644.6:c.692-169_692-167del ENSP00000410833.2:n.692-169_692-167del
ENST00000489715.1:c.569-169_569-167del ENSP00000419638.1:n.569-169_569-167del
ENST00000498468.1:n.220-147_220-145del
NM_000158.3:c.692-169_692-167del NP_000149.3:n.692-169_692-167del
NM_000158.4:c.692-169_692-167del MANE Select NP_000149.4:n.692-169_692-167del
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