Canonical Allele Identifier: CA30896512

Gene: GBA1

Linked Data

• dbSNP Id: rs1050455670
• gnomAD v2: 1-155209704-GC-G
• gnomAD v3: 1-155239913-GC-G
• gnomAD v4: 1-155239913-GC-G
• MyVariant Identifiers: chr1:g.155209705del (hg19) ; chr1:g.155239914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239917del , CM000663.2:g.155239917del	GRCh38
NC_000001.10:g.155209708del , CM000663.1:g.155209708del	GRCh37
NC_000001.9:g.153476332del	NCBI36
NG_009783.1:g.9784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.279del MANE Select	ENSP00000357357.3:p.Ile95SerfsTer12
ENST00000327247.9:c.279del	ENSP00000314508.5:p.Ile95SerfsTer12
ENST00000368373.7:c.279del	ENSP00000357357.3:p.Ile95SerfsTer12
ENST00000427500.7:c.279del	ENSP00000402577.2:p.Ile95SerfsTer?
ENST00000428024.3:c.18del	ENSP00000397986.2:p.Ile8SerfsTer12
ENST00000467918.5:n.469del
ENST00000473570.5:n.600del
ENST00000484489.5:n.339+59del
ENST00000493842.5:n.617del
ENST00000497670.5:n.49del
NM_000157.3:c.279del	NP_000148.2:p.Ile95SerfsTer12
NM_001005741.2:c.279del	NP_001005741.1:p.Ile95SerfsTer12
NM_001005742.2:c.279del	NP_001005742.1:p.Ile95SerfsTer12
NM_001171811.1:c.18del	NP_001165282.1:p.Ile8SerfsTer12
NM_001171812.1:c.279del	NP_001165283.1:p.Ile95SerfsTer?
XM_006711270.1:c.279del	XP_006711333.1:p.Ile95SerfsTer12
XM_011509407.1:c.279del	XP_011507709.1:p.Ile95SerfsTer12
NM_000157.4:c.279del MANE Select	NP_000148.2:p.Ile95SerfsTer12
NM_001005741.3:c.279del	NP_001005741.1:p.Ile95SerfsTer12
NM_001005742.3:c.279del	NP_001005742.1:p.Ile95SerfsTer12
NM_001171811.2:c.18del	NP_001165282.1:p.Ile8SerfsTer12
NM_001171812.2:c.279del	NP_001165283.1:p.Ile95SerfsTer?