Canonical Allele Identifier: CA2586967506

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239901dup , CM000663.2:g.155239901dup	GRCh38
NC_000001.10:g.155209692dup , CM000663.1:g.155209692dup	GRCh37
NC_000001.9:g.153476316dup	NCBI36
NG_009783.1:g.9798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.293dup MANE Select	ENSP00000357357.3:p.Asn98LysfsTer?
ENST00000327247.9:c.293dup	ENSP00000314508.5:p.Asn98LysfsTer?
ENST00000368373.7:c.293dup	ENSP00000357357.3:p.Asn98LysfsTer?
ENST00000427500.7:c.293dup	ENSP00000402577.2:p.Asn98LysfsTer10
ENST00000428024.3:c.32dup	ENSP00000397986.2:p.Asn11LysfsTer?
ENST00000467918.5:n.483dup
ENST00000473570.5:n.614dup
ENST00000484489.5:n.339+73dup
ENST00000493842.5:n.631dup
ENST00000497670.5:n.63dup
NM_000157.3:c.293dup	NP_000148.2:p.Asn98LysfsTer?
NM_001005741.2:c.293dup	NP_001005741.1:p.Asn98LysfsTer?
NM_001005742.2:c.293dup	NP_001005742.1:p.Asn98LysfsTer?
NM_001171811.1:c.32dup	NP_001165282.1:p.Asn11LysfsTer?
NM_001171812.1:c.293dup	NP_001165283.1:p.Asn98LysfsTer10
XM_006711270.1:c.293dup	XP_006711333.1:p.Asn98LysfsTer?
XM_011509407.1:c.293dup	XP_011507709.1:p.Asn98LysfsTer?
NM_000157.4:c.293dup MANE Select	NP_000148.2:p.Asn98LysfsTer?
NM_001005741.3:c.293dup	NP_001005741.1:p.Asn98LysfsTer?
NM_001005742.3:c.293dup	NP_001005742.1:p.Asn98LysfsTer?
NM_001171811.2:c.32dup	NP_001165282.1:p.Asn11LysfsTer?
NM_001171812.2:c.293dup	NP_001165283.1:p.Asn98LysfsTer10