Canonical Allele Identifier: CA2838387778

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238201dup , CM000663.2:g.155238201dup	GRCh38
NC_000001.10:g.155207992dup , CM000663.1:g.155207992dup	GRCh37
NC_000001.9:g.153474616dup	NCBI36
NG_009783.1:g.11499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.696dup MANE Select	ENSP00000357357.3:p.Lys233GlufsTer29
ENST00000327247.9:c.696dup	ENSP00000314508.5:p.Lys233GlufsTer29
ENST00000368373.7:c.696dup	ENSP00000357357.3:p.Lys233GlufsTer29
ENST00000427500.7:c.549dup	ENSP00000402577.2:p.Lys184GlufsTer29
ENST00000428024.3:c.435dup	ENSP00000397986.2:p.Lys146GlufsTer29
ENST00000460156.1:n.483dup
ENST00000484489.5:n.339+1774dup
ENST00000491081.5:n.301dup
ENST00000497670.5:n.319dup
NM_000157.3:c.696dup	NP_000148.2:p.Lys233GlufsTer29
NM_001005741.2:c.696dup	NP_001005741.1:p.Lys233GlufsTer29
NM_001005742.2:c.696dup	NP_001005742.1:p.Lys233GlufsTer29
NM_001171811.1:c.435dup	NP_001165282.1:p.Lys146GlufsTer29
NM_001171812.1:c.549dup	NP_001165283.1:p.Lys184GlufsTer29
XM_006711270.1:c.696dup	XP_006711333.1:p.Lys233GlufsTer29
XM_011509407.1:c.696dup	XP_011507709.1:p.Lys233GlufsTer29
NM_000157.4:c.696dup MANE Select	NP_000148.2:p.Lys233GlufsTer29
NM_001005741.3:c.696dup	NP_001005741.1:p.Lys233GlufsTer29
NM_001005742.3:c.696dup	NP_001005742.1:p.Lys233GlufsTer29
NM_001171811.2:c.435dup	NP_001165282.1:p.Lys146GlufsTer29
NM_001171812.2:c.549dup	NP_001165283.1:p.Lys184GlufsTer29