Canonical Allele Identifier: CA913103218
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81754687_81754688insA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705536_81705537insA , CM000665.2:g.81705536_81705537insA GRCh38
NC_000003.11:g.81754687_81754688insA , CM000665.1:g.81754687_81754688insA GRCh37
NC_000003.10:g.81837377_81837378insA NCBI36
NG_011810.1:g.61264_61265insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.220_221insT MANE Select ENSP00000410833.2:p.Glu74ValfsTer10
ENST00000429644.6:c.220_221insT ENSP00000410833.2:p.Glu74ValfsTer10
ENST00000489715.1:c.97_98insT ENSP00000419638.1:p.Glu33ValfsTer10
NM_000158.3:c.220_221insT NP_000149.3:p.Glu74ValfsTer10
NM_000158.4:c.220_221insT MANE Select NP_000149.4:p.Glu74ValfsTer10
Search 100 bp 5'
Search 100 bp 3'