Canonical Allele Identifier: CA2586967454

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236324_155236326del , CM000663.2:g.155236324_155236326del	GRCh38
NC_000001.10:g.155206115_155206117del , CM000663.1:g.155206115_155206117del	GRCh37
NC_000001.9:g.153472739_153472741del	NCBI36
NG_009783.1:g.13372_13374del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1143_1145del MANE Select	ENSP00000357357.3:p.Cys381_Val382delinsTr...
ENST00000327247.9:c.1143_1145del	ENSP00000314508.5:p.Cys381_Val382delinsTr...
ENST00000368373.7:c.1143_1145del	ENSP00000357357.3:p.Cys381_Val382delinsTr...
ENST00000427500.7:c.996_998del	ENSP00000402577.2:p.Cys332_Val333delinsTr...
ENST00000428024.3:c.882_884del	ENSP00000397986.2:p.Cys294_Val295delinsTr...
ENST00000478472.1:n.134_136del
ENST00000484489.5:n.340-38_340-36del
ENST00000491081.5:n.748_750del
NM_000157.3:c.1143_1145del	NP_000148.2:p.Cys381_Val382delinsTrp
NM_001005741.2:c.1143_1145del	NP_001005741.1:p.Cys381_Val382delinsTrp
NM_001005742.2:c.1143_1145del	NP_001005742.1:p.Cys381_Val382delinsTrp
NM_001171811.1:c.882_884del	NP_001165282.1:p.Cys294_Val295delinsTrp
NM_001171812.1:c.996_998del	NP_001165283.1:p.Cys332_Val333delinsTrp
XM_006711270.1:c.1143_1145del	XP_006711333.1:p.Cys381_Val382delinsTrp
XM_011509407.1:c.1143_1145del	XP_011507709.1:p.Cys381_Val382delinsTrp
NM_000157.4:c.1143_1145del MANE Select	NP_000148.2:p.Cys381_Val382delinsTrp
NM_001005741.3:c.1143_1145del	NP_001005741.1:p.Cys381_Val382delinsTrp
NM_001005742.3:c.1143_1145del	NP_001005742.1:p.Cys381_Val382delinsTrp
NM_001171811.2:c.882_884del	NP_001165282.1:p.Cys294_Val295delinsTrp
NM_001171812.2:c.996_998del	NP_001165283.1:p.Cys332_Val333delinsTrp