Canonical Allele Identifier: CA2586967442

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235788_155235790del , CM000663.2:g.155235788_155235790del	GRCh38
NC_000001.10:g.155205579_155205581del , CM000663.1:g.155205579_155205581del	GRCh37
NC_000001.9:g.153472203_153472205del	NCBI36
NG_009783.1:g.13909_13911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1280_1282del MANE Select	ENSP00000357357.3:p.Glu427del
ENST00000327247.9:c.1280_1282del	ENSP00000314508.5:p.Glu427del
ENST00000368373.7:c.1280_1282del	ENSP00000357357.3:p.Glu427del
ENST00000427500.7:c.1133_1135del	ENSP00000402577.2:p.Glu378del
ENST00000428024.3:c.1019_1021del	ENSP00000397986.2:p.Glu340del
ENST00000464536.1:n.47_49del
ENST00000478472.1:n.271_273del
ENST00000484489.5:n.439_441del
NM_000157.3:c.1280_1282del	NP_000148.2:p.Glu427del
NM_001005741.2:c.1280_1282del	NP_001005741.1:p.Glu427del
NM_001005742.2:c.1280_1282del	NP_001005742.1:p.Glu427del
NM_001171811.1:c.1019_1021del	NP_001165282.1:p.Glu340del
NM_001171812.1:c.1133_1135del	NP_001165283.1:p.Glu378del
XM_006711270.1:c.1280_1282del	XP_006711333.1:p.Glu427del
XM_011509407.1:c.1280_1282del	XP_011507709.1:p.Glu427del
NM_000157.4:c.1280_1282del MANE Select	NP_000148.2:p.Glu427del
NM_001005741.3:c.1280_1282del	NP_001005741.1:p.Glu427del
NM_001005742.3:c.1280_1282del	NP_001005742.1:p.Glu427del
NM_001171811.2:c.1019_1021del	NP_001165282.1:p.Glu340del
NM_001171812.2:c.1133_1135del	NP_001165283.1:p.Glu378del