Canonical Allele Identifier: CA253076

Gene: GBA1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155240673del , CM000663.2:g.155240673del	GRCh38
NC_000001.10:g.155210464del , CM000663.1:g.155210464del	GRCh37
NC_000001.9:g.153477088del	NCBI36
NG_009783.1:g.9026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.73del MANE Select	ENSP00000357357.3:p.Leu25SerfsTer?
ENST00000327247.9:c.73del	ENSP00000314508.5:p.Leu25SerfsTer?
ENST00000368373.7:c.73del	ENSP00000357357.3:p.Leu25SerfsTer?
ENST00000427500.7:c.73del	ENSP00000402577.2:p.Leu25SerfsTer?
ENST00000428024.3:c.-146-595del	ENSP00000397986.2:n.-146-595del
ENST00000467918.5:n.378del
ENST00000470104.1:n.204del
ENST00000473570.5:n.394del
ENST00000484489.5:n.192del
ENST00000493842.5:n.411del
NM_000157.3:c.73del	NP_000148.2:p.Leu25SerfsTer?
NM_001005741.2:c.73del	NP_001005741.1:p.Leu25SerfsTer?
NM_001005742.2:c.73del	NP_001005742.1:p.Leu25SerfsTer?
NM_001171811.1:c.-146-595del	NP_001165282.1:n.-146-595del
NM_001171812.1:c.73del	NP_001165283.1:p.Leu25SerfsTer?
XM_006711270.1:c.73del	XP_006711333.1:p.Leu25SerfsTer?
XM_011509407.1:c.73del	XP_011507709.1:p.Leu25SerfsTer?
NM_000157.4:c.73del MANE Select	NP_000148.2:p.Leu25SerfsTer?
NM_001005741.3:c.73del	NP_001005741.1:p.Leu25SerfsTer?
NM_001005742.3:c.73del	NP_001005742.1:p.Leu25SerfsTer?
NM_001171811.2:c.-146-595del	NP_001165282.1:n.-146-595del
NM_001171812.2:c.73del	NP_001165283.1:p.Leu25SerfsTer?