Canonical Allele Identifier: CA2586967504

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239676dup , CM000663.2:g.155239676dup	GRCh38
NC_000001.10:g.155209467dup , CM000663.1:g.155209467dup	GRCh37
NC_000001.9:g.153476091dup	NCBI36
NG_009783.1:g.10022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.394dup MANE Select	ENSP00000357357.3:p.Ile132AsnfsTer14
ENST00000327247.9:c.394dup	ENSP00000314508.5:p.Ile132AsnfsTer14
ENST00000368373.7:c.394dup	ENSP00000357357.3:p.Ile132AsnfsTer14
ENST00000427500.7:c.307+210dup	ENSP00000402577.2:n.307+210dup
ENST00000428024.3:c.133dup	ENSP00000397986.2:p.Ile45AsnfsTer14
ENST00000467918.5:n.584dup
ENST00000473570.5:n.715dup
ENST00000484489.5:n.339+297dup
ENST00000493842.5:n.732dup
ENST00000497670.5:n.77+210dup
NM_000157.3:c.394dup	NP_000148.2:p.Ile132AsnfsTer14
NM_001005741.2:c.394dup	NP_001005741.1:p.Ile132AsnfsTer14
NM_001005742.2:c.394dup	NP_001005742.1:p.Ile132AsnfsTer14
NM_001171811.1:c.133dup	NP_001165282.1:p.Ile45AsnfsTer14
NM_001171812.1:c.307+210dup	NP_001165283.1:n.307+210dup
XM_006711270.1:c.394dup	XP_006711333.1:p.Ile132AsnfsTer14
XM_011509407.1:c.394dup	XP_011507709.1:p.Ile132AsnfsTer14
NM_000157.4:c.394dup MANE Select	NP_000148.2:p.Ile132AsnfsTer14
NM_001005741.3:c.394dup	NP_001005741.1:p.Ile132AsnfsTer14
NM_001005742.3:c.394dup	NP_001005742.1:p.Ile132AsnfsTer14
NM_001171811.2:c.133dup	NP_001165282.1:p.Ile45AsnfsTer14
NM_001171812.2:c.307+210dup	NP_001165283.1:n.307+210dup