Canonical Allele Identifier: CA1141812

Gene: GBA1

Linked Data

• ClinVar Variation Id: 642539
• ClinVar RCV Id: RCV000796019 ; RCV001004136 ; RCV001775006 ; RCV002249507 ; RCV002495045
• dbSNP Id: rs761621516
• ExAC: 1:155209759 GGTA / G
• gnomAD v2: 1-155209759-GGTA-G
• gnomAD v3: 1-155239968-GGTA-G
• gnomAD v4: 1-155239968-GGTA-G
• MyVariant Identifiers: chr1:g.155209760_155209762del (hg19) ; chr1:g.155239969_155239971del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239969_155239971del , CM000663.2:g.155239969_155239971del	GRCh38
NC_000001.10:g.155209760_155209762del , CM000663.1:g.155209760_155209762del	GRCh37
NC_000001.9:g.153476384_153476386del	NCBI36
NG_009783.1:g.9727_9729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.222_224del MANE Select	ENSP00000357357.3:p.Thr75del
ENST00000327247.9:c.222_224del	ENSP00000314508.5:p.Thr75del
ENST00000368373.7:c.222_224del	ENSP00000357357.3:p.Thr75del
ENST00000427500.7:c.222_224del	ENSP00000402577.2:p.Thr75del
ENST00000428024.3:c.-40_-38del	ENSP00000397986.2:n.-40_-38del
ENST00000467918.5:n.421-9_421-7del
ENST00000470104.1:n.476_478del
ENST00000473570.5:n.543_545del
ENST00000484489.5:n.339+2_339+4del
ENST00000493842.5:n.560_562del
NM_000157.3:c.222_224del	NP_000148.2:p.Thr75del
NM_001005741.2:c.222_224del	NP_001005741.1:p.Thr75del
NM_001005742.2:c.222_224del	NP_001005742.1:p.Thr75del
NM_001171811.1:c.-40_-38del	NP_001165282.1:n.-40_-38del
NM_001171812.1:c.222_224del	NP_001165283.1:p.Thr75del
XM_006711270.1:c.222_224del	XP_006711333.1:p.Thr75del
XM_011509407.1:c.222_224del	XP_011507709.1:p.Thr75del
NM_000157.4:c.222_224del MANE Select	NP_000148.2:p.Thr75del
NM_001005741.3:c.222_224del	NP_001005741.1:p.Thr75del
NM_001005742.3:c.222_224del	NP_001005742.1:p.Thr75del
NM_001171811.2:c.-40_-38del	NP_001165282.1:n.-40_-38del
NM_001171812.2:c.222_224del	NP_001165283.1:p.Thr75del