Canonical Allele Identifier: CA78292405
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1009426313
gnomAD v3: 3-81648767-C-CA
gnomAD v4: 3-81648767-C-CA
MyVariant Identifiers: chr3:g.81697918_81697919insA (hg19) chr3:g.81648767_81648768insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648773dup , CM000665.2:g.81648773dup GRCh38
NC_000003.11:g.81697924dup , CM000665.1:g.81697924dup GRCh37
NC_000003.10:g.81780614dup NCBI36
NG_011810.1:g.118033dup

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+88dup MANE Select ENSP00000410833.2:n.691+88dup
ENST00000429644.6:c.691+88dup ENSP00000410833.2:n.691+88dup
ENST00000489715.1:c.568+88dup ENSP00000419638.1:n.568+88dup
ENST00000498468.1:n.219+88dup
NM_000158.3:c.691+88dup NP_000149.3:n.691+88dup
NM_000158.4:c.691+88dup MANE Select NP_000149.4:n.691+88dup
Search 100 bp 5'
Search 100 bp 3'