Canonical Allele Identifier: CA2648253281

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2687881
• ClinVar RCV Id: RCV003485997
• gnomAD v4: 1-155239625-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239626del , CM000663.2:g.155239626del	GRCh38
NC_000001.10:g.155209417del , CM000663.1:g.155209417del	GRCh37
NC_000001.9:g.153476041del	NCBI36
NG_009783.1:g.10072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.444del MANE Select	ENSP00000357357.3:p.Ser149LeufsTer?
ENST00000327247.9:c.444del	ENSP00000314508.5:p.Ser149LeufsTer?
ENST00000368373.7:c.444del	ENSP00000357357.3:p.Ser149LeufsTer?
ENST00000427500.7:c.307+260del	ENSP00000402577.2:n.307+260del
ENST00000428024.3:c.183del	ENSP00000397986.2:p.Ser62LeufsTer?
ENST00000473570.5:n.765del
ENST00000484489.5:n.339+347del
ENST00000493842.5:n.782del
ENST00000497670.5:n.77+260del
NM_000157.3:c.444del	NP_000148.2:p.Ser149LeufsTer?
NM_001005741.2:c.444del	NP_001005741.1:p.Ser149LeufsTer?
NM_001005742.2:c.444del	NP_001005742.1:p.Ser149LeufsTer?
NM_001171811.1:c.183del	NP_001165282.1:p.Ser62LeufsTer?
NM_001171812.1:c.307+260del	NP_001165283.1:n.307+260del
XM_006711270.1:c.444del	XP_006711333.1:p.Ser149LeufsTer?
XM_011509407.1:c.444del	XP_011507709.1:p.Ser149LeufsTer?
NM_000157.4:c.444del MANE Select	NP_000148.2:p.Ser149LeufsTer?
NM_001005741.3:c.444del	NP_001005741.1:p.Ser149LeufsTer?
NM_001005742.3:c.444del	NP_001005742.1:p.Ser149LeufsTer?
NM_001171811.2:c.183del	NP_001165282.1:p.Ser62LeufsTer?
NM_001171812.2:c.307+260del	NP_001165283.1:n.307+260del