Canonical Allele Identifier: CA2481203702

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239913_155239914delinsGC , CM000663.2:g.155239913_155239914delinsGC	GRCh38
NC_000001.10:g.155209704_155209705delinsGC , CM000663.1:g.155209704_155209705delinsGC	GRCh37
NC_000001.9:g.153476328_153476329delinsGC	NCBI36
NG_009783.1:g.9784_9785delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.279_280delinsGC MANE Select	ENSP00000357357.3:p.Gly93=
ENST00000327247.9:c.279_280delinsGC	ENSP00000314508.5:p.Gly93=
ENST00000368373.7:c.279_280delinsGC	ENSP00000357357.3:p.Gly93=
ENST00000427500.7:c.279_280delinsGC	ENSP00000402577.2:p.Gly93=
ENST00000428024.3:c.18_19delinsGC	ENSP00000397986.2:p.Gly6=
ENST00000467918.5:n.469_470delinsGC
ENST00000473570.5:n.600_601delinsGC
ENST00000484489.5:n.339+59_339+60delinsGC
ENST00000493842.5:n.617_618delinsGC
ENST00000497670.5:n.49_50delinsGC
NM_000157.3:c.279_280delinsGC	NP_000148.2:p.Gly93=
NM_001005741.2:c.279_280delinsGC	NP_001005741.1:p.Gly93=
NM_001005742.2:c.279_280delinsGC	NP_001005742.1:p.Gly93=
NM_001171811.1:c.18_19delinsGC	NP_001165282.1:p.Gly6=
NM_001171812.1:c.279_280delinsGC	NP_001165283.1:p.Gly93=
XM_006711270.1:c.279_280delinsGC	XP_006711333.1:p.Gly93=
XM_011509407.1:c.279_280delinsGC	XP_011507709.1:p.Gly93=
NM_000157.4:c.279_280delinsGC MANE Select	NP_000148.2:p.Gly93=
NM_001005741.3:c.279_280delinsGC	NP_001005741.1:p.Gly93=
NM_001005742.3:c.279_280delinsGC	NP_001005742.1:p.Gly93=
NM_001171811.2:c.18_19delinsGC	NP_001165282.1:p.Gly6=
NM_001171812.2:c.279_280delinsGC	NP_001165283.1:p.Gly93=