Canonical Allele Identifier: CA2666607832

Gene: GBE1

Linked Data

• gnomAD v4: 3-81705675-GTAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705679_81705682del , CM000665.2:g.81705679_81705682del	GRCh38
NC_000003.11:g.81754830_81754833del , CM000665.1:g.81754830_81754833del	GRCh37
NC_000003.10:g.81837520_81837523del	NCBI36
NG_011810.1:g.61122_61125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.144-66_144-63del MANE Select	ENSP00000410833.2:n.144-66_144-63del
ENST00000429644.6:c.144-66_144-63del	ENSP00000410833.2:n.144-66_144-63del
ENST00000489715.1:c.21-66_21-63del	ENSP00000419638.1:n.21-66_21-63del
NM_000158.3:c.144-66_144-63del	NP_000149.3:n.144-66_144-63del
NM_000158.4:c.144-66_144-63del MANE Select	NP_000149.4:n.144-66_144-63del