Canonical Allele Identifier: CA2573915639

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238543_155238544dup , CM000663.2:g.155238543_155238544dup	GRCh38
NC_000001.10:g.155208334_155208335dup , CM000663.1:g.155208334_155208335dup	GRCh37
NC_000001.9:g.153474958_153474959dup	NCBI36
NG_009783.1:g.11154_11155dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.561_562dup MANE Select	ENSP00000357357.3:p.Leu188ProfsTer13
ENST00000327247.9:c.561_562dup	ENSP00000314508.5:p.Leu188ProfsTer13
ENST00000368373.7:c.561_562dup	ENSP00000357357.3:p.Leu188ProfsTer13
ENST00000427500.7:c.414_415dup	ENSP00000402577.2:p.Leu139ProfsTer13
ENST00000428024.3:c.300_301dup	ENSP00000397986.2:p.Leu101ProfsTer13
ENST00000460156.1:n.348_349dup
ENST00000484489.5:n.339+1429_339+1430dup
ENST00000491081.5:n.166_167dup
ENST00000493842.5:n.899_900dup
ENST00000497670.5:n.184_185dup
NM_000157.3:c.561_562dup	NP_000148.2:p.Leu188ProfsTer13
NM_001005741.2:c.561_562dup	NP_001005741.1:p.Leu188ProfsTer13
NM_001005742.2:c.561_562dup	NP_001005742.1:p.Leu188ProfsTer13
NM_001171811.1:c.300_301dup	NP_001165282.1:p.Leu101ProfsTer13
NM_001171812.1:c.414_415dup	NP_001165283.1:p.Leu139ProfsTer13
XM_006711270.1:c.561_562dup	XP_006711333.1:p.Leu188ProfsTer13
XM_011509407.1:c.561_562dup	XP_011507709.1:p.Leu188ProfsTer13
NM_000157.4:c.561_562dup MANE Select	NP_000148.2:p.Leu188ProfsTer13
NM_001005741.3:c.561_562dup	NP_001005741.1:p.Leu188ProfsTer13
NM_001005742.3:c.561_562dup	NP_001005742.1:p.Leu188ProfsTer13
NM_001171811.2:c.300_301dup	NP_001165282.1:p.Leu101ProfsTer13
NM_001171812.2:c.414_415dup	NP_001165283.1:p.Leu139ProfsTer13