Canonical Allele Identifier: CA1141815

Gene: GBA1

Linked Data

• dbSNP Id: rs769900428
• ExAC: 1:155209764 CA / C
• gnomAD v2: 1-155209764-CA-C
• gnomAD v3: 1-155239973-CA-C
• gnomAD v4: 1-155239973-CA-C
• MyVariant Identifiers: chr1:g.155209765del (hg19) ; chr1:g.155239974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239975del , CM000663.2:g.155239975del	GRCh38
NC_000001.10:g.155209766del , CM000663.1:g.155209766del	GRCh37
NC_000001.9:g.153476390del	NCBI36
NG_009783.1:g.9724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.219del MANE Select	ENSP00000357357.3:p.Gly74ValfsTer17
ENST00000327247.9:c.219del	ENSP00000314508.5:p.Gly74ValfsTer17
ENST00000368373.7:c.219del	ENSP00000357357.3:p.Gly74ValfsTer17
ENST00000427500.7:c.219del	ENSP00000402577.2:p.Gly74ValfsTer17
ENST00000428024.3:c.-43del	ENSP00000397986.2:n.-43del
ENST00000467918.5:n.421-12del
ENST00000470104.1:n.473del
ENST00000473570.5:n.540del
ENST00000484489.5:n.338del
ENST00000493842.5:n.557del
NM_000157.3:c.219del	NP_000148.2:p.Gly74ValfsTer17
NM_001005741.2:c.219del	NP_001005741.1:p.Gly74ValfsTer17
NM_001005742.2:c.219del	NP_001005742.1:p.Gly74ValfsTer17
NM_001171811.1:c.-43del	NP_001165282.1:n.-43del
NM_001171812.1:c.219del	NP_001165283.1:p.Gly74ValfsTer17
XM_006711270.1:c.219del	XP_006711333.1:p.Gly74ValfsTer17
XM_011509407.1:c.219del	XP_011507709.1:p.Gly74ValfsTer17
NM_000157.4:c.219del MANE Select	NP_000148.2:p.Gly74ValfsTer17
NM_001005741.3:c.219del	NP_001005741.1:p.Gly74ValfsTer17
NM_001005742.3:c.219del	NP_001005742.1:p.Gly74ValfsTer17
NM_001171811.2:c.-43del	NP_001165282.1:n.-43del
NM_001171812.2:c.219del	NP_001165283.1:p.Gly74ValfsTer17