Canonical Allele Identifier: CA2499616
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178422
ClinVar RCV Id: RCV002614860
dbSNP Id: rs766366468
ExAC: 3:81627069 CACTT / C
gnomAD v2: 3-81627069-CACTT-C
gnomAD v3: 3-81577918-CACTT-C
gnomAD v4: 3-81577918-CACTT-C
MyVariant Identifiers: chr3:g.81627070_81627073del (hg19) chr3:g.81577919_81577922del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577921_81577924del , CM000665.2:g.81577921_81577924del GRCh38
NC_000003.11:g.81627072_81627075del , CM000665.1:g.81627072_81627075del GRCh37
NC_000003.10:g.81709762_81709765del NCBI36
NG_011810.1:g.188879_188882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1618+3_1618+6del MANE Select ENSP00000410833.2:n.1618+3_1618+6del
ENST00000429644.6:c.1618+3_1618+6del ENSP00000410833.2:n.1618+3_1618+6del
ENST00000484687.1:n.19+3_19+6del
ENST00000489715.1:c.1495+3_1495+6del ENSP00000419638.1:n.1495+3_1495+6del
NM_000158.3:c.1618+3_1618+6del NP_000149.3:n.1618+3_1618+6del
NM_000158.4:c.1618+3_1618+6del MANE Select NP_000149.4:n.1618+3_1618+6del
Search 100 bp 5'
Search 100 bp 3'