Canonical Allele Identifier: CA544279045
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1288882437
gnomAD v2: 3-81584630-CCTAA-C
gnomAD v3: 3-81535479-CCTAA-C
gnomAD v4: 3-81535479-CCTAA-C
MyVariant Identifiers: chr3:g.81584631_81584634del (hg19) chr3:g.81535480_81535483del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535482_81535485del , CM000665.2:g.81535482_81535485del GRCh38
NC_000003.11:g.81584633_81584636del , CM000665.1:g.81584633_81584636del GRCh37
NC_000003.10:g.81667323_81667326del NCBI36
NG_011810.1:g.231318_231321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-158_1804-155del MANE Select ENSP00000410833.2:n.1804-158_1804-155del
ENST00000429644.6:c.1804-158_1804-155del ENSP00000410833.2:n.1804-158_1804-155del
ENST00000484687.1:n.205-158_205-155del
ENST00000489715.1:c.1681-158_1681-155del ENSP00000419638.1:n.1681-158_1681-155del
NM_000158.3:c.1804-158_1804-155del NP_000149.3:n.1804-158_1804-155del
NM_000158.4:c.1804-158_1804-155del MANE Select NP_000149.4:n.1804-158_1804-155del
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