Canonical Allele Identifier: CA2666620896

Gene: GBE1

Linked Data

• gnomAD v4: 3-81535402-TAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535403_81535406del , CM000665.2:g.81535403_81535406del	GRCh38
NC_000003.11:g.81584554_81584557del , CM000665.1:g.81584554_81584557del	GRCh37
NC_000003.10:g.81667244_81667247del	NCBI36
NG_011810.1:g.231395_231398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-81_1804-78del MANE Select	ENSP00000410833.2:n.1804-81_1804-78del
ENST00000429644.6:c.1804-81_1804-78del	ENSP00000410833.2:n.1804-81_1804-78del
ENST00000484687.1:n.205-81_205-78del
ENST00000489715.1:c.1681-81_1681-78del	ENSP00000419638.1:n.1681-81_1681-78del
NM_000158.3:c.1804-81_1804-78del	NP_000149.3:n.1804-81_1804-78del
NM_000158.4:c.1804-81_1804-78del MANE Select	NP_000149.4:n.1804-81_1804-78del