Canonical Allele Identifier: CA2666624131
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648863-TTTGA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648866_81648869del , CM000665.2:g.81648866_81648869del GRCh38
NC_000003.11:g.81698017_81698020del , CM000665.1:g.81698017_81698020del GRCh37
NC_000003.10:g.81780707_81780710del NCBI36
NG_011810.1:g.117934_117937del

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.680_683del MANE Select ENSP00000410833.2:p.Ile227LysfsTer10
ENST00000429644.6:c.680_683del ENSP00000410833.2:p.Ile227LysfsTer10
ENST00000489715.1:c.557_560del ENSP00000419638.1:p.Ile186LysfsTer10
ENST00000498468.1:n.208_211del
NM_000158.3:c.680_683del NP_000149.3:p.Ile227LysfsTer10
NM_000158.4:c.680_683del MANE Select NP_000149.4:p.Ile227LysfsTer10
Search 100 bp 5'
Search 100 bp 3'