Canonical Allele Identifier: CA526434134

Gene: GBA1

Linked Data

• dbSNP Id: rs1280978177
• gnomAD v2: 1-155209741-ACT-A
• gnomAD v4: 1-155239950-ACT-A
• MyVariant Identifiers: chr1:g.155209742_155209743del (hg19) ; chr1:g.155239951_155239952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239954_155239955del , CM000663.2:g.155239954_155239955del	GRCh38
NC_000001.10:g.155209745_155209746del , CM000663.1:g.155209745_155209746del	GRCh37
NC_000001.9:g.153476369_153476370del	NCBI36
NG_009783.1:g.9746_9747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.241_242del MANE Select	ENSP00000357357.3:p.Ser81TyrfsTer17
ENST00000327247.9:c.241_242del	ENSP00000314508.5:p.Ser81TyrfsTer17
ENST00000368373.7:c.241_242del	ENSP00000357357.3:p.Ser81TyrfsTer17
ENST00000427500.7:c.241_242del	ENSP00000402577.2:p.Ser81TyrfsTer17
ENST00000428024.3:c.-21_-20del	ENSP00000397986.2:n.-21_-20del
ENST00000467918.5:n.431_432del
ENST00000473570.5:n.562_563del
ENST00000484489.5:n.339+21_339+22del
ENST00000493842.5:n.579_580del
ENST00000497670.5:n.11_12del
NM_000157.3:c.241_242del	NP_000148.2:p.Ser81TyrfsTer17
NM_001005741.2:c.241_242del	NP_001005741.1:p.Ser81TyrfsTer17
NM_001005742.2:c.241_242del	NP_001005742.1:p.Ser81TyrfsTer17
NM_001171811.1:c.-21_-20del	NP_001165282.1:n.-21_-20del
NM_001171812.1:c.241_242del	NP_001165283.1:p.Ser81TyrfsTer17
XM_006711270.1:c.241_242del	XP_006711333.1:p.Ser81TyrfsTer17
XM_011509407.1:c.241_242del	XP_011507709.1:p.Ser81TyrfsTer17
NM_000157.4:c.241_242del MANE Select	NP_000148.2:p.Ser81TyrfsTer17
NM_001005741.3:c.241_242del	NP_001005741.1:p.Ser81TyrfsTer17
NM_001005742.3:c.241_242del	NP_001005742.1:p.Ser81TyrfsTer17
NM_001171811.2:c.-21_-20del	NP_001165282.1:n.-21_-20del
NM_001171812.2:c.241_242del	NP_001165283.1:p.Ser81TyrfsTer17