Canonical Allele Identifier: CA2573131121

Gene: GBA1

Linked Data

• ClinVar Variation Id: 1677224
• ClinVar RCV Id: RCV002223082
• dbSNP Id: rs2148070579

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235257_155235263del , CM000663.2:g.155235257_155235263del	GRCh38
NC_000001.10:g.155205048_155205054del , CM000663.1:g.155205048_155205054del	GRCh37
NC_000001.9:g.153471672_153471678del	NCBI36
NG_009783.1:g.14437_14443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1439_1445del MANE Select	ENSP00000357357.3:p.Lys480ThrfsTer7
ENST00000327247.9:c.1439_1445del	ENSP00000314508.5:p.Lys480ThrfsTer7
ENST00000368373.7:c.1439_1445del	ENSP00000357357.3:p.Lys480ThrfsTer7
ENST00000427500.7:c.1292_1298del	ENSP00000402577.2:p.Lys431ThrfsTer7
ENST00000428024.3:c.1178_1184del	ENSP00000397986.2:p.Lys393ThrfsTer7
ENST00000464536.1:n.190+385_190+391del
ENST00000478472.1:n.799_805del
ENST00000484489.5:n.598_604del
NM_000157.3:c.1439_1445del	NP_000148.2:p.Lys480ThrfsTer7
NM_001005741.2:c.1439_1445del	NP_001005741.1:p.Lys480ThrfsTer7
NM_001005742.2:c.1439_1445del	NP_001005742.1:p.Lys480ThrfsTer7
NM_001171811.1:c.1178_1184del	NP_001165282.1:p.Lys393ThrfsTer7
NM_001171812.1:c.1292_1298del	NP_001165283.1:p.Lys431ThrfsTer7
XM_006711270.1:c.1439_1445del	XP_006711333.1:p.Lys480ThrfsTer7
XM_011509407.1:c.1439_1445del	XP_011507709.1:p.Lys480ThrfsTer7
NM_000157.4:c.1439_1445del MANE Select	NP_000148.2:p.Lys480ThrfsTer7
NM_001005741.3:c.1439_1445del	NP_001005741.1:p.Lys480ThrfsTer7
NM_001005742.3:c.1439_1445del	NP_001005742.1:p.Lys480ThrfsTer7
NM_001171811.2:c.1178_1184del	NP_001165282.1:p.Lys393ThrfsTer7
NM_001171812.2:c.1292_1298del	NP_001165283.1:p.Lys431ThrfsTer7