Canonical Allele Identifier: CA658795274
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 556718
ClinVar RCV Id: RCV000672761
dbSNP Id: rs1555601780

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113313_80113314del , CM000679.2:g.80113313_80113314del GRCh38
NC_000017.10:g.78087112_78087113del , CM000679.1:g.78087112_78087113del GRCh37
NC_000017.9:g.75701707_75701708del NCBI36
NG_009822.1:g.16758_16759del , LRG_673:g.16758_16759del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2136_2137del ENSP00000460543.2:p.Phe713ProfsTer23
ENST00000572080.2:c.*274_*275del ENSP00000459972.2:n.*274_*275del
ENST00000577106.6:c.2136_2137del ENSP00000458306.2:p.Phe713ProfsTer23
ENST00000302262.8:c.2136_2137del MANE Select ENSP00000305692.3:p.Phe713ProfsTer23
ENST00000302262.7:c.2136_2137del ENSP00000305692.3:p.Phe713ProfsTer23
ENST00000390015.7:c.2136_2137del ENSP00000374665.3:p.Phe713ProfsTer23
ENST00000572080.1:c.555_556del
NM_000152.3:c.2136_2137del , LRG_673t1:c.2136_2137del NP_000143.2:p.Phe713ProfsTer23
NM_001079803.1:c.2136_2137del NP_001073271.1:p.Phe713ProfsTer23
NM_001079804.1:c.2136_2137del NP_001073272.1:p.Phe713ProfsTer23
XM_005257193.1:c.2136_2137del XP_005257250.1:p.Phe713ProfsTer23
XM_005257194.3:c.2136_2137del XP_005257251.1:p.Phe713ProfsTer23
NM_000152.4:c.2136_2137del NP_000143.2:p.Phe713ProfsTer23
NM_001079803.2:c.2136_2137del NP_001073271.1:p.Phe713ProfsTer23
NM_001079804.2:c.2136_2137del NP_001073272.1:p.Phe713ProfsTer23
XM_005257193.2:c.2136_2137del XP_005257250.1:p.Phe713ProfsTer23
XM_005257194.4:c.2136_2137del XP_005257251.1:p.Phe713ProfsTer23
NM_000152.5:c.2136_2137del MANE Select NP_000143.2:p.Phe713ProfsTer23
NM_001079803.3:c.2136_2137del NP_001073271.1:p.Phe713ProfsTer23
NM_001079804.3:c.2136_2137del NP_001073272.1:p.Phe713ProfsTer23