Canonical Allele Identifier: CA2666623934

Gene: GBE1

Linked Data

• gnomAD v4: 3-81646533-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646534_81646535del , CM000665.2:g.81646534_81646535del	GRCh38
NC_000003.11:g.81695685_81695686del , CM000665.1:g.81695685_81695686del	GRCh37
NC_000003.10:g.81778375_81778376del	NCBI36
NG_011810.1:g.120266_120267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-53_692-52del MANE Select	ENSP00000410833.2:n.692-53_692-52del
ENST00000429644.6:c.692-53_692-52del	ENSP00000410833.2:n.692-53_692-52del
ENST00000489715.1:c.569-53_569-52del	ENSP00000419638.1:n.569-53_569-52del
ENST00000498468.1:n.220-31_220-30del
NM_000158.3:c.692-53_692-52del	NP_000149.3:n.692-53_692-52del
NM_000158.4:c.692-53_692-52del MANE Select	NP_000149.4:n.692-53_692-52del