Canonical Allele Identifier: CA2481201436

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235109_155235110delinsCA , CM000663.2:g.155235109_155235110delinsCA	GRCh38
NC_000001.10:g.155204900_155204901delinsCA , CM000663.1:g.155204900_155204901delinsCA	GRCh37
NC_000001.9:g.153471524_153471525delinsCA	NCBI36
NG_009783.1:g.14588_14589delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.1506-10_1506-9delinsTG MANE Select	ENSP00000357357.3:n.1506-10_1506-9delinsT...
ENST00000327247.9:c.1506-10_1506-9delinsTG	ENSP00000314508.5:n.1506-10_1506-9delinsT...
ENST00000368373.7:c.1506-10_1506-9delinsTG	ENSP00000357357.3:n.1506-10_1506-9delinsT...
ENST00000427500.7:c.1359-10_1359-9delinsTG	ENSP00000402577.2:n.1359-10_1359-9delinsT...
ENST00000428024.3:c.1245-10_1245-9delinsTG	ENSP00000397986.2:n.1245-10_1245-9delinsT...
ENST00000464536.1:n.191-289_191-288delinsTG
ENST00000478472.1:n.866-10_866-9delinsTG
ENST00000484489.5:n.665-10_665-9delinsTG
NM_000157.3:c.1506-10_1506-9delinsTG	NP_000148.2:n.1506-10_1506-9delinsTG
NM_001005741.2:c.1506-10_1506-9delinsTG	NP_001005741.1:n.1506-10_1506-9delinsTG
NM_001005742.2:c.1506-10_1506-9delinsTG	NP_001005742.1:n.1506-10_1506-9delinsTG
NM_001171811.1:c.1245-10_1245-9delinsTG	NP_001165282.1:n.1245-10_1245-9delinsTG
NM_001171812.1:c.1359-10_1359-9delinsTG	NP_001165283.1:n.1359-10_1359-9delinsTG
XM_006711270.1:c.1506-10_1506-9delinsTG	XP_006711333.1:n.1506-10_1506-9delinsTG
XM_011509407.1:c.1506-10_1506-9delinsTG	XP_011507709.1:n.1506-10_1506-9delinsTG
NM_000157.4:c.1506-10_1506-9delinsTG MANE Select	NP_000148.2:n.1506-10_1506-9delinsTG
NM_001005741.3:c.1506-10_1506-9delinsTG	NP_001005741.1:n.1506-10_1506-9delinsTG
NM_001005742.3:c.1506-10_1506-9delinsTG	NP_001005742.1:n.1506-10_1506-9delinsTG
NM_001171811.2:c.1245-10_1245-9delinsTG	NP_001165282.1:n.1245-10_1245-9delinsTG
NM_001171812.2:c.1359-10_1359-9delinsTG	NP_001165283.1:n.1359-10_1359-9delinsTG