Canonical Allele Identifier: CA78292191
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs754568921
gnomAD v2: 3-81695729-TACAA-T
gnomAD v3: 3-81646578-TACAA-T
gnomAD v4: 3-81646578-TACAA-T
MyVariant Identifiers: chr3:g.81695730_81695733del (hg19) chr3:g.81646579_81646582del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646583_81646586del , CM000665.2:g.81646583_81646586del GRCh38
NC_000003.11:g.81695734_81695737del , CM000665.1:g.81695734_81695737del GRCh37
NC_000003.10:g.81778424_81778427del NCBI36
NG_011810.1:g.120219_120222del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-100_692-97del MANE Select ENSP00000410833.2:n.692-100_692-97del
ENST00000429644.6:c.692-100_692-97del ENSP00000410833.2:n.692-100_692-97del
ENST00000489715.1:c.569-100_569-97del ENSP00000419638.1:n.569-100_569-97del
ENST00000498468.1:n.220-78_220-75del
NM_000158.3:c.692-100_692-97del NP_000149.3:n.692-100_692-97del
NM_000158.4:c.692-100_692-97del MANE Select NP_000149.4:n.692-100_692-97del
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