Canonical Allele Identifier: CA2481203564

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239739_155239740delinsCT , CM000663.2:g.155239739_155239740delinsCT	GRCh38
NC_000001.10:g.155209530_155209531delinsCT , CM000663.1:g.155209530_155209531delinsCT	GRCh37
NC_000001.9:g.153476154_153476155delinsCT	NCBI36
NG_009783.1:g.9958_9959delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.330_331delinsAG MANE Select	ENSP00000357357.3:p.Pro110=
ENST00000327247.9:c.330_331delinsAG	ENSP00000314508.5:p.Pro110=
ENST00000368373.7:c.330_331delinsAG	ENSP00000357357.3:p.Pro110=
ENST00000427500.7:c.307+146_307+147delinsAG	ENSP00000402577.2:n.307+146_307+147delinsAG
ENST00000428024.3:c.69_70delinsAG	ENSP00000397986.2:p.Pro23=
ENST00000467918.5:n.520_521delinsAG
ENST00000473570.5:n.651_652delinsAG
ENST00000484489.5:n.339+233_339+234delinsAG
ENST00000493842.5:n.668_669delinsAG
ENST00000497670.5:n.77+146_77+147delinsAG
NM_000157.3:c.330_331delinsAG	NP_000148.2:p.Pro110=
NM_001005741.2:c.330_331delinsAG	NP_001005741.1:p.Pro110=
NM_001005742.2:c.330_331delinsAG	NP_001005742.1:p.Pro110=
NM_001171811.1:c.69_70delinsAG	NP_001165282.1:p.Pro23=
NM_001171812.1:c.307+146_307+147delinsAG	NP_001165283.1:n.307+146_307+147delinsAG
XM_006711270.1:c.330_331delinsAG	XP_006711333.1:p.Pro110=
XM_011509407.1:c.330_331delinsAG	XP_011507709.1:p.Pro110=
NM_000157.4:c.330_331delinsAG MANE Select	NP_000148.2:p.Pro110=
NM_001005741.3:c.330_331delinsAG	NP_001005741.1:p.Pro110=
NM_001005742.3:c.330_331delinsAG	NP_001005742.1:p.Pro110=
NM_001171811.2:c.69_70delinsAG	NP_001165282.1:p.Pro23=
NM_001171812.2:c.307+146_307+147delinsAG	NP_001165283.1:n.307+146_307+147delinsAG