Canonical Allele Identifier: CA253083
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193611
ClinVar RCV Id: RCV000004555 RCV000020147 RCV000173718 RCV000723462 RCV002500459
dbSNP Id: rs80356768
MyVariant Identifiers: chr1:g.155205541_155205595del (hg19) chr1:g.155235750_155235804del (hg38)
PubMed: PMID:8432537 PMID:8516282 PMID:10685993 PMID:20301446 PMID:20947659 PMID:21704274 PMID:22234757 PMID:27008851
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155235752_155235806del , CM000663.2:g.155235752_155235806del GRCh38
NC_000001.10:g.155205543_155205597del , CM000663.1:g.155205543_155205597del GRCh37
NC_000001.9:g.153472167_153472221del NCBI36
NG_009783.1:g.13894_13948del

Transcript Alleles

HGVS Amino-acid change
ENST00000368373.8:c.1265_1319del MANE Select ENSP00000357357.3:p.Leu422ProfsTer4
ENST00000327247.9:c.1265_1319del ENSP00000314508.5:p.Leu422ProfsTer4
ENST00000368373.7:c.1265_1319del ENSP00000357357.3:p.Leu422ProfsTer4
ENST00000427500.7:c.1118_1172del ENSP00000402577.2:p.Leu373ProfsTer4
ENST00000428024.3:c.1004_1058del ENSP00000397986.2:p.Leu335ProfsTer4
ENST00000464536.1:n.32_86del
ENST00000478472.1:n.256_310del
ENST00000484489.5:n.424_478del
NM_000157.3:c.1265_1319del NP_000148.2:p.Leu422ProfsTer4
NM_001005741.2:c.1265_1319del NP_001005741.1:p.Leu422ProfsTer4
NM_001005742.2:c.1265_1319del NP_001005742.1:p.Leu422ProfsTer4
NM_001171811.1:c.1004_1058del NP_001165282.1:p.Leu335ProfsTer4
NM_001171812.1:c.1118_1172del NP_001165283.1:p.Leu373ProfsTer4
XM_006711270.1:c.1265_1319del XP_006711333.1:p.Leu422ProfsTer4
XM_011509407.1:c.1265_1319del XP_011507709.1:p.Leu422ProfsTer4
NM_000157.4:c.1265_1319del MANE Select NP_000148.2:p.Leu422ProfsTer4
NM_001005741.3:c.1265_1319del NP_001005741.1:p.Leu422ProfsTer4
NM_001005742.3:c.1265_1319del NP_001005742.1:p.Leu422ProfsTer4
NM_001171811.2:c.1004_1058del NP_001165282.1:p.Leu335ProfsTer4
NM_001171812.2:c.1118_1172del NP_001165283.1:p.Leu373ProfsTer4
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