Canonical Allele Identifier: CA2746209021

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235182_155235184del , CM000663.2:g.155235182_155235184del	GRCh38
NC_000001.10:g.155204973_155204975del , CM000663.1:g.155204973_155204975del	GRCh37
NC_000001.9:g.153471597_153471599del	NCBI36
NG_009783.1:g.14516_14518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1505+13_1505+15del MANE Select	ENSP00000357357.3:n.1505+13_1505+15del
ENST00000327247.9:c.1505+13_1505+15del	ENSP00000314508.5:n.1505+13_1505+15del
ENST00000368373.7:c.1505+13_1505+15del	ENSP00000357357.3:n.1505+13_1505+15del
ENST00000427500.7:c.1358+13_1358+15del	ENSP00000402577.2:n.1358+13_1358+15del
ENST00000428024.3:c.1244+13_1244+15del	ENSP00000397986.2:n.1244+13_1244+15del
ENST00000464536.1:n.191-361_191-359del
ENST00000478472.1:n.865+13_865+15del
ENST00000484489.5:n.664+13_664+15del
NM_000157.3:c.1505+13_1505+15del	NP_000148.2:n.1505+13_1505+15del
NM_001005741.2:c.1505+13_1505+15del	NP_001005741.1:n.1505+13_1505+15del
NM_001005742.2:c.1505+13_1505+15del	NP_001005742.1:n.1505+13_1505+15del
NM_001171811.1:c.1244+13_1244+15del	NP_001165282.1:n.1244+13_1244+15del
NM_001171812.1:c.1358+13_1358+15del	NP_001165283.1:n.1358+13_1358+15del
XM_006711270.1:c.1505+13_1505+15del	XP_006711333.1:n.1505+13_1505+15del
XM_011509407.1:c.1505+13_1505+15del	XP_011507709.1:n.1505+13_1505+15del
NM_000157.4:c.1505+13_1505+15del MANE Select	NP_000148.2:n.1505+13_1505+15del
NM_001005741.3:c.1505+13_1505+15del	NP_001005741.1:n.1505+13_1505+15del
NM_001005742.3:c.1505+13_1505+15del	NP_001005742.1:n.1505+13_1505+15del
NM_001171811.2:c.1244+13_1244+15del	NP_001165282.1:n.1244+13_1244+15del
NM_001171812.2:c.1358+13_1358+15del	NP_001165283.1:n.1358+13_1358+15del