Canonical Allele Identifier: CA1378679297

Gene: GBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535422_81535423delinsCA , CM000665.2:g.81535422_81535423delinsCA	GRCh38
NC_000003.11:g.81584573_81584574delinsCA , CM000665.1:g.81584573_81584574delinsCA	GRCh37
NC_000003.10:g.81667263_81667264delinsCA	NCBI36
NG_011810.1:g.231378_231379delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-98_1804-97delinsTG MANE Select	ENSP00000410833.2:n.1804-98_1804-97delinsTG
ENST00000429644.6:c.1804-98_1804-97delinsTG	ENSP00000410833.2:n.1804-98_1804-97delinsTG
ENST00000484687.1:n.205-98_205-97delinsTG
ENST00000489715.1:c.1681-98_1681-97delinsTG	ENSP00000419638.1:n.1681-98_1681-97delinsTG
NM_000158.3:c.1804-98_1804-97delinsTG	NP_000149.3:n.1804-98_1804-97delinsTG
NM_000158.4:c.1804-98_1804-97delinsTG MANE Select	NP_000149.4:n.1804-98_1804-97delinsTG