Canonical Allele Identifier: CA916082437
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 845665
ClinVar RCV Id: RCV001048776
dbSNP Id: rs2039038181
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104897_80104899del , CM000679.2:g.80104897_80104899del GRCh38
NC_000017.10:g.78078696_78078698del , CM000679.1:g.78078696_78078698del GRCh37
NC_000017.9:g.75693291_75693293del NCBI36
NG_009822.1:g.8342_8344del , LRG_673:g.8342_8344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.311_313del ENSP00000460543.2:p.Glu104del
ENST00000572080.2:c.311_313del ENSP00000459972.2:p.Glu104del
ENST00000577106.6:c.311_313del ENSP00000458306.2:p.Glu104del
ENST00000302262.8:c.311_313del MANE Select ENSP00000305692.3:p.Glu104del
ENST00000302262.7:c.311_313del ENSP00000305692.3:p.Glu104del
ENST00000390015.7:c.311_313del ENSP00000374665.3:p.Glu104del
ENST00000570803.5:c.311_313del ENSP00000460543.1:p.Glu104del
ENST00000577106.5:c.311_313del ENSP00000458306.1:p.Glu104del
NM_000152.3:c.311_313del , LRG_673t1:c.311_313del NP_000143.2:p.Glu104del
NM_001079803.1:c.311_313del NP_001073271.1:p.Glu104del
NM_001079804.1:c.311_313del NP_001073272.1:p.Glu104del
XM_005257193.1:c.311_313del XP_005257250.1:p.Glu104del
XM_005257194.3:c.311_313del XP_005257251.1:p.Glu104del
NM_000152.4:c.311_313del NP_000143.2:p.Glu104del
NM_001079803.2:c.311_313del NP_001073271.1:p.Glu104del
NM_001079804.2:c.311_313del NP_001073272.1:p.Glu104del
XM_005257193.2:c.311_313del XP_005257250.1:p.Glu104del
XM_005257194.4:c.311_313del XP_005257251.1:p.Glu104del
NM_000152.5:c.311_313del MANE Select NP_000143.2:p.Glu104del
NM_001079803.3:c.311_313del NP_001073271.1:p.Glu104del
NM_001079804.3:c.311_313del NP_001073272.1:p.Glu104del
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