Canonical Allele Identifier: CA2481203720

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239973_155239974delinsCA , CM000663.2:g.155239973_155239974delinsCA	GRCh38
NC_000001.10:g.155209764_155209765delinsCA , CM000663.1:g.155209764_155209765delinsCA	GRCh37
NC_000001.9:g.153476388_153476389delinsCA	NCBI36
NG_009783.1:g.9724_9725delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.219_220delinsTG MANE Select	ENSP00000357357.3:p.Leu73=
ENST00000327247.9:c.219_220delinsTG	ENSP00000314508.5:p.Leu73=
ENST00000368373.7:c.219_220delinsTG	ENSP00000357357.3:p.Leu73=
ENST00000427500.7:c.219_220delinsTG	ENSP00000402577.2:p.Leu73=
ENST00000428024.3:c.-43_-42delinsTG	ENSP00000397986.2:n.-43_-42delinsTG
ENST00000467918.5:n.421-12_421-11delinsTG
ENST00000470104.1:n.473_474delinsTG
ENST00000473570.5:n.540_541delinsTG
ENST00000484489.5:n.338_339delinsTG
ENST00000493842.5:n.557_558delinsTG
NM_000157.3:c.219_220delinsTG	NP_000148.2:p.Leu73=
NM_001005741.2:c.219_220delinsTG	NP_001005741.1:p.Leu73=
NM_001005742.2:c.219_220delinsTG	NP_001005742.1:p.Leu73=
NM_001171811.1:c.-43_-42delinsTG	NP_001165282.1:n.-43_-42delinsTG
NM_001171812.1:c.219_220delinsTG	NP_001165283.1:p.Leu73=
XM_006711270.1:c.219_220delinsTG	XP_006711333.1:p.Leu73=
XM_011509407.1:c.219_220delinsTG	XP_011507709.1:p.Leu73=
NM_000157.4:c.219_220delinsTG MANE Select	NP_000148.2:p.Leu73=
NM_001005741.3:c.219_220delinsTG	NP_001005741.1:p.Leu73=
NM_001005742.3:c.219_220delinsTG	NP_001005742.1:p.Leu73=
NM_001171811.2:c.-43_-42delinsTG	NP_001165282.1:n.-43_-42delinsTG
NM_001171812.2:c.219_220delinsTG	NP_001165283.1:p.Leu73=