Canonical Allele Identifier: CA1378679336
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1703063043
gnomAD v3: 3-81535515-T-TATACA
gnomAD v4: 3-81535515-T-TATACA
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535516_81535517insTACAA , CM000665.2:g.81535516_81535517insTACAA GRCh38
NC_000003.11:g.81584667_81584668insTACAA , CM000665.1:g.81584667_81584668insTACAA GRCh37
NC_000003.10:g.81667357_81667358insTACAA NCBI36
NG_011810.1:g.231285_231286insTGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-191_1804-190insTGTAT MANE Select ENSP00000410833.2:n.1804-191_1804-190insTGTAT
ENST00000429644.6:c.1804-191_1804-190insTGTAT ENSP00000410833.2:n.1804-191_1804-190insTGTAT
ENST00000484687.1:n.205-191_205-190insTGTAT
ENST00000489715.1:c.1681-191_1681-190insTGTAT ENSP00000419638.1:n.1681-191_1681-190insTGTAT
NM_000158.3:c.1804-191_1804-190insTGTAT NP_000149.3:n.1804-191_1804-190insTGTAT
NM_000158.4:c.1804-191_1804-190insTGTAT MANE Select NP_000149.4:n.1804-191_1804-190insTGTAT
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