Canonical Allele Identifier: CA2586967434

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235252del , CM000663.2:g.155235252del	GRCh38
NC_000001.10:g.155205043del , CM000663.1:g.155205043del	GRCh37
NC_000001.9:g.153471667del	NCBI36
NG_009783.1:g.14446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1448del MANE Select	ENSP00000357357.3:p.Leu483ArgfsTer6
ENST00000327247.9:c.1448del	ENSP00000314508.5:p.Leu483ArgfsTer6
ENST00000368373.7:c.1448del	ENSP00000357357.3:p.Leu483ArgfsTer6
ENST00000427500.7:c.1301del	ENSP00000402577.2:p.Leu434ArgfsTer6
ENST00000428024.3:c.1187del	ENSP00000397986.2:p.Leu396ArgfsTer6
ENST00000464536.1:n.190+394del
ENST00000478472.1:n.808del
ENST00000484489.5:n.607del
NM_000157.3:c.1448del	NP_000148.2:p.Leu483ArgfsTer6
NM_001005741.2:c.1448del	NP_001005741.1:p.Leu483ArgfsTer6
NM_001005742.2:c.1448del	NP_001005742.1:p.Leu483ArgfsTer6
NM_001171811.1:c.1187del	NP_001165282.1:p.Leu396ArgfsTer6
NM_001171812.1:c.1301del	NP_001165283.1:p.Leu434ArgfsTer6
XM_006711270.1:c.1448del	XP_006711333.1:p.Leu483ArgfsTer6
XM_011509407.1:c.1448del	XP_011507709.1:p.Leu483ArgfsTer6
NM_000157.4:c.1448del MANE Select	NP_000148.2:p.Leu483ArgfsTer6
NM_001005741.3:c.1448del	NP_001005741.1:p.Leu483ArgfsTer6
NM_001005742.3:c.1448del	NP_001005742.1:p.Leu483ArgfsTer6
NM_001171811.2:c.1187del	NP_001165282.1:p.Leu396ArgfsTer6
NM_001171812.2:c.1301del	NP_001165283.1:p.Leu434ArgfsTer6