Canonical Allele Identifier: CA1378760108
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705502_81705503delinsAC , CM000665.2:g.81705502_81705503delinsAC GRCh38
NC_000003.11:g.81754653_81754654delinsAC , CM000665.1:g.81754653_81754654delinsAC GRCh37
NC_000003.10:g.81837343_81837344delinsAC NCBI36
NG_011810.1:g.61298_61299delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.254_255delinsGT MANE Select ENSP00000410833.2:p.Gly85=
ENST00000429644.6:c.254_255delinsGT ENSP00000410833.2:p.Gly85=
ENST00000489715.1:c.131_132delinsGT ENSP00000419638.1:p.Gly44=
NM_000158.3:c.254_255delinsGT NP_000149.3:p.Gly85=
NM_000158.4:c.254_255delinsGT MANE Select NP_000149.4:p.Gly85=
Search 100 bp 5'
Search 100 bp 3'