Canonical Allele Identifier: CA2666620892

Gene: GBE1

Linked Data

• gnomAD v4: 3-81535394-GTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535399_81535402del , CM000665.2:g.81535399_81535402del	GRCh38
NC_000003.11:g.81584550_81584553del , CM000665.1:g.81584550_81584553del	GRCh37
NC_000003.10:g.81667240_81667243del	NCBI36
NG_011810.1:g.231403_231406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-73_1804-70del MANE Select	ENSP00000410833.2:n.1804-73_1804-70del
ENST00000429644.6:c.1804-73_1804-70del	ENSP00000410833.2:n.1804-73_1804-70del
ENST00000484687.1:n.205-73_205-70del
ENST00000489715.1:c.1681-73_1681-70del	ENSP00000419638.1:n.1681-73_1681-70del
NM_000158.3:c.1804-73_1804-70del	NP_000149.3:n.1804-73_1804-70del
NM_000158.4:c.1804-73_1804-70del MANE Select	NP_000149.4:n.1804-73_1804-70del