Canonical Allele Identifier: CA2666620936

Gene: GBE1

Linked Data

• gnomAD v4: 3-81535459-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535460_81535461del , CM000665.2:g.81535460_81535461del	GRCh38
NC_000003.11:g.81584611_81584612del , CM000665.1:g.81584611_81584612del	GRCh37
NC_000003.10:g.81667301_81667302del	NCBI36
NG_011810.1:g.231340_231341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-136_1804-135del MANE Select	ENSP00000410833.2:n.1804-136_1804-135del
ENST00000429644.6:c.1804-136_1804-135del	ENSP00000410833.2:n.1804-136_1804-135del
ENST00000484687.1:n.205-136_205-135del
ENST00000489715.1:c.1681-136_1681-135del	ENSP00000419638.1:n.1681-136_1681-135del
NM_000158.3:c.1804-136_1804-135del	NP_000149.3:n.1804-136_1804-135del
NM_000158.4:c.1804-136_1804-135del MANE Select	NP_000149.4:n.1804-136_1804-135del