Canonical Allele Identifier: CA2586967431

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235203_155235217delinsGACGACCACAACAGG , CM000663.2:g.155235203_155235217delinsGACGACCACAACAGG	GRCh38
NC_000001.10:g.155204994_155205008delinsGACGACCACAACAGG , CM000663.1:g.155204994_155205008delinsGACGACCACAACAGG	GRCh37
NC_000001.9:g.153471618_153471632delinsGACGACCACAACAGG	NCBI36
NG_009783.1:g.14481_14495delinsCCTGTTGTGGTCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1483_1497delinsCCTGTTGTGGTCGTC MANE Select	ENSP00000357357.3:p.Ala495Pro
ENST00000327247.9:c.1483_1497delinsCCTGTTGTGGTCGTC	ENSP00000314508.5:p.Ala495Pro
ENST00000368373.7:c.1483_1497delinsCCTGTTGTGGTCGTC	ENSP00000357357.3:p.Ala495Pro
ENST00000427500.7:c.1336_1350delinsCCTGTTGTGGTCGTC	ENSP00000402577.2:p.Ala446Pro
ENST00000428024.3:c.1222_1236delinsCCTGTTGTGGTCGTC	ENSP00000397986.2:p.Ala408Pro
ENST00000464536.1:n.191-396_191-382delinsCCTGTTGTGGTCGTC
ENST00000478472.1:n.843_857delinsCCTGTTGTGGTCGTC
ENST00000484489.5:n.642_656delinsCCTGTTGTGGTCGTC
NM_000157.3:c.1483_1497delinsCCTGTTGTGGTCGTC	NP_000148.2:p.Ala495Pro
NM_001005741.2:c.1483_1497delinsCCTGTTGTGGTCGTC	NP_001005741.1:p.Ala495Pro
NM_001005742.2:c.1483_1497delinsCCTGTTGTGGTCGTC	NP_001005742.1:p.Ala495Pro
NM_001171811.1:c.1222_1236delinsCCTGTTGTGGTCGTC	NP_001165282.1:p.Ala408Pro
NM_001171812.1:c.1336_1350delinsCCTGTTGTGGTCGTC	NP_001165283.1:p.Ala446Pro
XM_006711270.1:c.1483_1497delinsCCTGTTGTGGTCGTC	XP_006711333.1:p.Ala495Pro
XM_011509407.1:c.1483_1497delinsCCTGTTGTGGTCGTC	XP_011507709.1:p.Ala495Pro
NM_000157.4:c.1483_1497delinsCCTGTTGTGGTCGTC MANE Select	NP_000148.2:p.Ala495Pro
NM_001005741.3:c.1483_1497delinsCCTGTTGTGGTCGTC	NP_001005741.1:p.Ala495Pro
NM_001005742.3:c.1483_1497delinsCCTGTTGTGGTCGTC	NP_001005742.1:p.Ala495Pro
NM_001171811.2:c.1222_1236delinsCCTGTTGTGGTCGTC	NP_001165282.1:p.Ala408Pro
NM_001171812.2:c.1336_1350delinsCCTGTTGTGGTCGTC	NP_001165283.1:p.Ala446Pro