Canonical Allele Identifier: CA16040929

Gene: GBE1

Linked Data

• ClinVar Variation Id: 371491
• ClinVar RCV Id: RCV000409231 ; RCV000706367 ; RCV003137987
• dbSNP Id: rs1057517315
• gnomAD v4: 3-81705468-CT-C
• MyVariant Identifiers: chr3:g.81754620del (hg19) ; chr3:g.81705469del (hg38)
• PubMed: PMID:21917543

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705470del , CM000665.2:g.81705470del	GRCh38
NC_000003.11:g.81754621del , CM000665.1:g.81754621del	GRCh37
NC_000003.10:g.81837311del	NCBI36
NG_011810.1:g.61332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.288del MANE Select	ENSP00000410833.2:p.Gly97GlufsTer?
ENST00000429644.6:c.288del	ENSP00000410833.2:p.Gly97GlufsTer?
ENST00000489715.1:c.165del	ENSP00000419638.1:p.Gly56GlufsTer?
NM_000158.3:c.288del	NP_000149.3:p.Gly97GlufsTer?
NM_000158.4:c.288del MANE Select	NP_000149.4:p.Gly97GlufsTer?