Canonical Allele Identifier: CA2580095271
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1725545
ClinVar RCV Id: RCV002309229

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107693_80107694del , CM000679.2:g.80107693_80107694del GRCh38
NC_000017.10:g.78081492_78081493del , CM000679.1:g.78081492_78081493del GRCh37
NC_000017.9:g.75696087_75696088del NCBI36
NG_009822.1:g.11138_11139del , LRG_673:g.11138_11139del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.829_830del ENSP00000460543.2:p.Thr277ProfsTer?
ENST00000572080.2:c.829_830del ENSP00000459972.2:p.Thr277ProfsTer?
ENST00000577106.6:c.829_830del ENSP00000458306.2:p.Thr277ProfsTer?
ENST00000302262.8:c.829_830del MANE Select ENSP00000305692.3:p.Thr277ProfsTer?
ENST00000302262.7:c.829_830del ENSP00000305692.3:p.Thr277ProfsTer?
ENST00000390015.7:c.829_830del ENSP00000374665.3:p.Thr277ProfsTer?
ENST00000570803.5:c.829_830del ENSP00000460543.1:p.Thr277ProfsTer?
NM_000152.3:c.829_830del , LRG_673t1:c.829_830del NP_000143.2:p.Thr277ProfsTer?
NM_001079803.1:c.829_830del NP_001073271.1:p.Thr277ProfsTer?
NM_001079804.1:c.829_830del NP_001073272.1:p.Thr277ProfsTer?
XM_005257193.1:c.829_830del XP_005257250.1:p.Thr277ProfsTer?
XM_005257194.3:c.829_830del XP_005257251.1:p.Thr277ProfsTer?
NM_000152.4:c.829_830del NP_000143.2:p.Thr277ProfsTer?
NM_001079803.2:c.829_830del NP_001073271.1:p.Thr277ProfsTer?
NM_001079804.2:c.829_830del NP_001073272.1:p.Thr277ProfsTer?
XM_005257193.2:c.829_830del XP_005257250.1:p.Thr277ProfsTer?
XM_005257194.4:c.829_830del XP_005257251.1:p.Thr277ProfsTer?
NM_000152.5:c.829_830del MANE Select NP_000143.2:p.Thr277ProfsTer?
NM_001079803.3:c.829_830del NP_001073271.1:p.Thr277ProfsTer?
NM_001079804.3:c.829_830del NP_001073272.1:p.Thr277ProfsTer?