Canonical Allele Identifier: CA501137

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239726del , CM000663.2:g.155239726del	GRCh38
NC_000001.10:g.155209517del , CM000663.1:g.155209517del	GRCh37
NC_000001.9:g.153476141del	NCBI36
NG_009783.1:g.9972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.344del MANE Select	ENSP00000357357.3:p.Gln115ArgfsTer3
ENST00000327247.9:c.344del	ENSP00000314508.5:p.Gln115ArgfsTer3
ENST00000368373.7:c.344del	ENSP00000357357.3:p.Gln115ArgfsTer3
ENST00000427500.7:c.307+160del	ENSP00000402577.2:n.307+160del
ENST00000428024.3:c.83del	ENSP00000397986.2:p.Gln28ArgfsTer3
ENST00000467918.5:n.534del
ENST00000473570.5:n.665del
ENST00000484489.5:n.339+247del
ENST00000493842.5:n.682del
ENST00000497670.5:n.77+160del
NM_000157.3:c.344del	NP_000148.2:p.Gln115ArgfsTer3
NM_001005741.2:c.344del	NP_001005741.1:p.Gln115ArgfsTer3
NM_001005742.2:c.344del	NP_001005742.1:p.Gln115ArgfsTer3
NM_001171811.1:c.83del	NP_001165282.1:p.Gln28ArgfsTer3
NM_001171812.1:c.307+160del	NP_001165283.1:n.307+160del
XM_006711270.1:c.344del	XP_006711333.1:p.Gln115ArgfsTer3
XM_011509407.1:c.344del	XP_011507709.1:p.Gln115ArgfsTer3
NM_000157.4:c.344del MANE Select	NP_000148.2:p.Gln115ArgfsTer3
NM_001005741.3:c.344del	NP_001005741.1:p.Gln115ArgfsTer3
NM_001005742.3:c.344del	NP_001005742.1:p.Gln115ArgfsTer3
NM_001171811.2:c.83del	NP_001165282.1:p.Gln28ArgfsTer3
NM_001171812.2:c.307+160del	NP_001165283.1:n.307+160del