Canonical Allele Identifier: CA2666624128
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648851-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648853del , CM000665.2:g.81648853del GRCh38
NC_000003.11:g.81698004del , CM000665.1:g.81698004del GRCh37
NC_000003.10:g.81780694del NCBI36
NG_011810.1:g.117949del

Transcript Alleles

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