Canonical Allele Identifier: CA889649710

Gene: GBA1

Linked Data

• dbSNP Id: rs1427968367
• gnomAD v3: 1-155239551-AAAAAAAGAAAAG-A
• gnomAD v4: 1-155239551-AAAAAAAGAAAAG-A
• MyVariant Identifiers: chr1:g.155209343_155209354del (hg19) ; chr1:g.155239552_155239563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239557_155239568del , CM000663.2:g.155239557_155239568del	GRCh38
NC_000001.10:g.155209348_155209359del , CM000663.1:g.155209348_155209359del	GRCh37
NC_000001.9:g.153475972_153475983del	NCBI36
NG_009783.1:g.10135_10146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.454+53_454+64del MANE Select	ENSP00000357357.3:n.454+53_454+64del
ENST00000327247.9:c.454+53_454+64del	ENSP00000314508.5:n.454+53_454+64del
ENST00000368373.7:c.454+53_454+64del	ENSP00000357357.3:n.454+53_454+64del
ENST00000427500.7:c.307+323_307+334del	ENSP00000402577.2:n.307+323_307+334del
ENST00000428024.3:c.193+53_193+64del	ENSP00000397986.2:n.193+53_193+64del
ENST00000473570.5:n.775+53_775+64del
ENST00000484489.5:n.339+410_339+421del
ENST00000493842.5:n.792+53_792+64del
ENST00000497670.5:n.77+323_77+334del
NM_000157.3:c.454+53_454+64del	NP_000148.2:n.454+53_454+64del
NM_001005741.2:c.454+53_454+64del	NP_001005741.1:n.454+53_454+64del
NM_001005742.2:c.454+53_454+64del	NP_001005742.1:n.454+53_454+64del
NM_001171811.1:c.193+53_193+64del	NP_001165282.1:n.193+53_193+64del
NM_001171812.1:c.307+323_307+334del	NP_001165283.1:n.307+323_307+334del
XM_006711270.1:c.454+53_454+64del	XP_006711333.1:n.454+53_454+64del
XM_011509407.1:c.454+53_454+64del	XP_011507709.1:n.454+53_454+64del
NM_000157.4:c.454+53_454+64del MANE Select	NP_000148.2:n.454+53_454+64del
NM_001005741.3:c.454+53_454+64del	NP_001005741.1:n.454+53_454+64del
NM_001005742.3:c.454+53_454+64del	NP_001005742.1:n.454+53_454+64del
NM_001171811.2:c.193+53_193+64del	NP_001165282.1:n.193+53_193+64del
NM_001171812.2:c.307+323_307+334del	NP_001165283.1:n.307+323_307+334del