Canonical Allele Identifier: CA544278653
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1294708967
gnomAD v2: 3-81698153-T-TA
MyVariant Identifiers: chr3:g.81698153_81698154insA (hg19) chr3:g.81649002_81649003insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649006dup , CM000665.2:g.81649006dup GRCh38
NC_000003.11:g.81698157dup , CM000665.1:g.81698157dup GRCh37
NC_000003.10:g.81780847dup NCBI36
NG_011810.1:g.117798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-12dup MANE Select ENSP00000410833.2:n.556-12dup
ENST00000429644.6:c.556-12dup ENSP00000410833.2:n.556-12dup
ENST00000486920.1:n.552-12dup
ENST00000489715.1:c.433-12dup ENSP00000419638.1:n.433-12dup
ENST00000498468.1:n.84-12dup
NM_000158.3:c.556-12dup NP_000149.3:n.556-12dup
NM_000158.4:c.556-12dup MANE Select NP_000149.4:n.556-12dup
Search 100 bp 5'
Search 100 bp 3'