Canonical Allele Identifier: CA1148892876

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236474_155236476delinsAAA , CM000663.2:g.155236474_155236476delinsAAA	GRCh38
NC_000001.10:g.155206265_155206267delinsAAA , CM000663.1:g.155206265_155206267delinsAAA	GRCh37
NC_000001.9:g.153472889_153472891delinsAAA	NCBI36
NG_009783.1:g.13222_13224delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1000-7_1000-5delinsTTT MANE Select	ENSP00000357357.3:n.1000-7_1000-5delinsTTT
ENST00000327247.9:c.1000-7_1000-5delinsTTT	ENSP00000314508.5:n.1000-7_1000-5delinsTTT
ENST00000368373.7:c.1000-7_1000-5delinsTTT	ENSP00000357357.3:n.1000-7_1000-5delinsTTT
ENST00000427500.7:c.853-7_853-5delinsTTT	ENSP00000402577.2:n.853-7_853-5delinsTTT
ENST00000428024.3:c.739-7_739-5delinsTTT	ENSP00000397986.2:n.739-7_739-5delinsTTT
ENST00000484489.5:n.340-188_340-186delinsTTT
ENST00000491081.5:n.605-7_605-5delinsTTT
ENST00000497670.5:n.623-7_623-5delinsTTT
NM_000157.3:c.1000-7_1000-5delinsTTT	NP_000148.2:n.1000-7_1000-5delinsTTT
NM_001005741.2:c.1000-7_1000-5delinsTTT	NP_001005741.1:n.1000-7_1000-5delinsTTT
NM_001005742.2:c.1000-7_1000-5delinsTTT	NP_001005742.1:n.1000-7_1000-5delinsTTT
NM_001171811.1:c.739-7_739-5delinsTTT	NP_001165282.1:n.739-7_739-5delinsTTT
NM_001171812.1:c.853-7_853-5delinsTTT	NP_001165283.1:n.853-7_853-5delinsTTT
XM_006711270.1:c.1000-7_1000-5delinsTTT	XP_006711333.1:n.1000-7_1000-5delinsTTT
XM_011509407.1:c.1000-7_1000-5delinsTTT	XP_011507709.1:n.1000-7_1000-5delinsTTT
NM_000157.4:c.1000-7_1000-5delinsTTT MANE Select	NP_000148.2:n.1000-7_1000-5delinsTTT
NM_001005741.3:c.1000-7_1000-5delinsTTT	NP_001005741.1:n.1000-7_1000-5delinsTTT
NM_001005742.3:c.1000-7_1000-5delinsTTT	NP_001005742.1:n.1000-7_1000-5delinsTTT
NM_001171811.2:c.739-7_739-5delinsTTT	NP_001165282.1:n.739-7_739-5delinsTTT
NM_001171812.2:c.853-7_853-5delinsTTT	NP_001165283.1:n.853-7_853-5delinsTTT