Canonical Allele Identifier: CA910983126
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1363128759
gnomAD v3: 3-81535422-C-CA
gnomAD v4: 3-81535422-C-CA
MyVariant Identifiers: chr3:g.81584573_81584574insA (hg19) chr3:g.81535422_81535423insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535427dup , CM000665.2:g.81535427dup GRCh38
NC_000003.11:g.81584578dup , CM000665.1:g.81584578dup GRCh37
NC_000003.10:g.81667268dup NCBI36
NG_011810.1:g.231378dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-98dup MANE Select ENSP00000410833.2:n.1804-98dup
ENST00000429644.6:c.1804-98dup ENSP00000410833.2:n.1804-98dup
ENST00000484687.1:n.205-98dup
ENST00000489715.1:c.1681-98dup ENSP00000419638.1:n.1681-98dup
NM_000158.3:c.1804-98dup NP_000149.3:n.1804-98dup
NM_000158.4:c.1804-98dup MANE Select NP_000149.4:n.1804-98dup
Search 100 bp 5'
Search 100 bp 3'