Allele Registry

Canonical Allele Identifier: CA221400

Gene: GBA1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.155238618del

GRCh37 chr1:g.155208409del

GRCh37 chr1:g.155208409delC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000179354

ClinVar Variation:

93452

dbSNP:

398123529

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238619del , CM000663.2:g.155238619del	GRCh38
NC_000001.10:g.155208410del , CM000663.1:g.155208410del	GRCh37
NC_000001.9:g.153475034del	NCBI36
NG_009783.1:g.11080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.487del MANE Select	ENSP00000357357.3:p.Ala163ProfsTer?
ENST00000327247.9:c.487del	ENSP00000314508.5:p.Ala163ProfsTer?
ENST00000368373.7:c.487del	ENSP00000357357.3:p.Ala163ProfsTer?
ENST00000427500.7:c.340del	ENSP00000402577.2:p.Ala114ProfsTer?
ENST00000428024.3:c.226del	ENSP00000397986.2:p.Ala76ProfsTer?
ENST00000460156.1:n.274del
ENST00000473570.5:n.808del
ENST00000484489.5:n.339+1355del
ENST00000491081.5:n.92del
ENST00000493842.5:n.825del
ENST00000497670.5:n.110del
NM_000157.3:c.487del	NP_000148.2:p.Ala163ProfsTer?
NM_001005741.2:c.487del	NP_001005741.1:p.Ala163ProfsTer?
NM_001005742.2:c.487del	NP_001005742.1:p.Ala163ProfsTer?
NM_001171811.1:c.226del	NP_001165282.1:p.Ala76ProfsTer?
NM_001171812.1:c.340del	NP_001165283.1:p.Ala114ProfsTer?
XM_006711270.1:c.487del	XP_006711333.1:p.Ala163ProfsTer?
XM_011509407.1:c.487del	XP_011507709.1:p.Ala163ProfsTer?
NM_000157.4:c.487del MANE Select	NP_000148.2:p.Ala163ProfsTer?
NM_001005741.3:c.487del	NP_001005741.1:p.Ala163ProfsTer?
NM_001005742.3:c.487del	NP_001005742.1:p.Ala163ProfsTer?
NM_001171811.2:c.226del	NP_001165282.1:p.Ala76ProfsTer?
NM_001171812.2:c.340del	NP_001165283.1:p.Ala114ProfsTer?

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