Canonical Allele Identifier: CA1148405576

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239778_155239780delinsGGG , CM000663.2:g.155239778_155239780delinsGGG	GRCh38
NC_000001.10:g.155209569_155209571delinsGGG , CM000663.1:g.155209569_155209571delinsGGG	GRCh37
NC_000001.9:g.153476193_153476195delinsGGG	NCBI36
NG_009783.1:g.9918_9920delinsCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.308-18_308-16delinsCCC MANE Select	ENSP00000357357.3:n.308-18_308-16delinsCCC
ENST00000327247.9:c.308-18_308-16delinsCCC	ENSP00000314508.5:n.308-18_308-16delinsCCC
ENST00000368373.7:c.308-18_308-16delinsCCC	ENSP00000357357.3:n.308-18_308-16delinsCCC
ENST00000427500.7:c.307+106_307+108delinsCCC	ENSP00000402577.2:n.307+106_307+108delinsCCC
ENST00000428024.3:c.47-18_47-16delinsCCC	ENSP00000397986.2:n.47-18_47-16delinsCCC
ENST00000467918.5:n.498-18_498-16delinsCCC
ENST00000473570.5:n.629-18_629-16delinsCCC
ENST00000484489.5:n.339+193_339+195delinsCCC
ENST00000493842.5:n.646-18_646-16delinsCCC
ENST00000497670.5:n.77+106_77+108delinsCCC
NM_000157.3:c.308-18_308-16delinsCCC	NP_000148.2:n.308-18_308-16delinsCCC
NM_001005741.2:c.308-18_308-16delinsCCC	NP_001005741.1:n.308-18_308-16delinsCCC
NM_001005742.2:c.308-18_308-16delinsCCC	NP_001005742.1:n.308-18_308-16delinsCCC
NM_001171811.1:c.47-18_47-16delinsCCC	NP_001165282.1:n.47-18_47-16delinsCCC
NM_001171812.1:c.307+106_307+108delinsCCC	NP_001165283.1:n.307+106_307+108delinsCCC
XM_006711270.1:c.308-18_308-16delinsCCC	XP_006711333.1:n.308-18_308-16delinsCCC
XM_011509407.1:c.308-18_308-16delinsCCC	XP_011507709.1:n.308-18_308-16delinsCCC
NM_000157.4:c.308-18_308-16delinsCCC MANE Select	NP_000148.2:n.308-18_308-16delinsCCC
NM_001005741.3:c.308-18_308-16delinsCCC	NP_001005741.1:n.308-18_308-16delinsCCC
NM_001005742.3:c.308-18_308-16delinsCCC	NP_001005742.1:n.308-18_308-16delinsCCC
NM_001171811.2:c.47-18_47-16delinsCCC	NP_001165282.1:n.47-18_47-16delinsCCC
NM_001171812.2:c.307+106_307+108delinsCCC	NP_001165283.1:n.307+106_307+108delinsCCC