Canonical Allele Identifier: CA544277844

Gene: GBE1

Linked Data

• dbSNP Id: rs1164186179
• gnomAD v2: 3-81695681-A-AC
• MyVariant Identifiers: chr3:g.81695681_81695682insC (hg19) ; chr3:g.81646530_81646531insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646530_81646531insC , CM000665.2:g.81646530_81646531insC	GRCh38
NC_000003.11:g.81695681_81695682insC , CM000665.1:g.81695681_81695682insC	GRCh37
NC_000003.10:g.81778371_81778372insC	NCBI36
NG_011810.1:g.120270_120271insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-49_692-48insG MANE Select	ENSP00000410833.2:n.692-49_692-48insG
ENST00000429644.6:c.692-49_692-48insG	ENSP00000410833.2:n.692-49_692-48insG
ENST00000489715.1:c.569-49_569-48insG	ENSP00000419638.1:n.569-49_569-48insG
ENST00000498468.1:n.220-27_220-26insG
NM_000158.3:c.692-49_692-48insG	NP_000149.3:n.692-49_692-48insG
NM_000158.4:c.692-49_692-48insG MANE Select	NP_000149.4:n.692-49_692-48insG