Canonical Allele Identifier: CA910983111
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1377322707
gnomAD v3: 3-81535387-A-AT
gnomAD v4: 3-81535387-A-AT
MyVariant Identifiers: chr3:g.81584538_81584539insT (hg19) chr3:g.81535387_81535388insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535393dup , CM000665.2:g.81535393dup GRCh38
NC_000003.11:g.81584544dup , CM000665.1:g.81584544dup GRCh37
NC_000003.10:g.81667234dup NCBI36
NG_011810.1:g.231413dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-63dup MANE Select ENSP00000410833.2:n.1804-63dup
ENST00000429644.6:c.1804-63dup ENSP00000410833.2:n.1804-63dup
ENST00000484687.1:n.205-63dup
ENST00000489715.1:c.1681-63dup ENSP00000419638.1:n.1681-63dup
NM_000158.3:c.1804-63dup NP_000149.3:n.1804-63dup
NM_000158.4:c.1804-63dup MANE Select NP_000149.4:n.1804-63dup
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Search 100 bp 3'