Canonical Allele Identifier: CA916315667

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2504379
• ClinVar RCV Id: RCV003231840
• dbSNP Id: rs1557906527

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239620_155239622del , CM000663.2:g.155239620_155239622del	GRCh38
NC_000001.10:g.155209411_155209413del , CM000663.1:g.155209411_155209413del	GRCh37
NC_000001.9:g.153476035_153476037del	NCBI36
NG_009783.1:g.10080_10082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.452_454del MANE Select	ENSP00000357357.3:p.Glu151del
ENST00000327247.9:c.452_454del	ENSP00000314508.5:p.Glu151del
ENST00000368373.7:c.452_454del	ENSP00000357357.3:p.Glu151del
ENST00000427500.7:c.307+268_307+270del	ENSP00000402577.2:n.307+268_307+270del
ENST00000428024.3:c.191_193del	ENSP00000397986.2:p.Glu64del
ENST00000473570.5:n.773_775del
ENST00000484489.5:n.339+355_339+357del
ENST00000493842.5:n.790_792del
ENST00000497670.5:n.77+268_77+270del
NM_000157.3:c.452_454del	NP_000148.2:p.Glu151del
NM_001005741.2:c.452_454del	NP_001005741.1:p.Glu151del
NM_001005742.2:c.452_454del	NP_001005742.1:p.Glu151del
NM_001171811.1:c.191_193del	NP_001165282.1:p.Glu64del
NM_001171812.1:c.307+268_307+270del	NP_001165283.1:n.307+268_307+270del
XM_006711270.1:c.452_454del	XP_006711333.1:p.Glu151del
XM_011509407.1:c.452_454del	XP_011507709.1:p.Glu151del
NM_000157.4:c.452_454del MANE Select	NP_000148.2:p.Glu151del
NM_001005741.3:c.452_454del	NP_001005741.1:p.Glu151del
NM_001005742.3:c.452_454del	NP_001005742.1:p.Glu151del
NM_001171811.2:c.191_193del	NP_001165282.1:p.Glu64del
NM_001171812.2:c.307+268_307+270del	NP_001165283.1:n.307+268_307+270del