Canonical Allele Identifier: CA911023973

Gene: GBE1

Linked Data

• dbSNP Id: rs1434495555
• gnomAD v3: 3-81649165-TCCTGCTAGTGGA-T
• gnomAD v4: 3-81649165-TCCTGCTAGTGGA-T
• MyVariant Identifiers: chr3:g.81698317_81698328del (hg19) ; chr3:g.81649166_81649177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649169_81649180del , CM000665.2:g.81649169_81649180del	GRCh38
NC_000003.11:g.81698320_81698331del , CM000665.1:g.81698320_81698331del	GRCh37
NC_000003.10:g.81781010_81781021del	NCBI36
NG_011810.1:g.117624_117635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-186_556-175del MANE Select	ENSP00000410833.2:n.556-186_556-175del
ENST00000429644.6:c.556-186_556-175del	ENSP00000410833.2:n.556-186_556-175del
ENST00000486920.1:n.552-186_552-175del
ENST00000489715.1:c.433-186_433-175del	ENSP00000419638.1:n.433-186_433-175del
ENST00000498468.1:n.84-186_84-175del
NM_000158.3:c.556-186_556-175del	NP_000149.3:n.556-186_556-175del
NM_000158.4:c.556-186_556-175del MANE Select	NP_000149.4:n.556-186_556-175del