Canonical Allele Identifier: CA2640289210
Gene: GAA HGNC NCBI

Linked Data

gnomAD v4: 17-80118299-AGAGCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118300_80118304del , CM000679.2:g.80118300_80118304del GRCh38
NC_000017.10:g.78092099_78092103del , CM000679.1:g.78092099_78092103del GRCh37
NC_000017.9:g.75706694_75706698del NCBI36
NG_009822.1:g.21745_21749del , LRG_673:g.21745_21749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2589_2593del ENSP00000460543.2:p.Glu863AspfsTer19
ENST00000572080.2:c.*727_*731del ENSP00000459972.2:n.*727_*731del
ENST00000577106.6:c.2589_2593del ENSP00000458306.2:p.Glu863AspfsTer19
ENST00000302262.8:c.2589_2593del MANE Select ENSP00000305692.3:p.Glu863AspfsTer19
ENST00000302262.7:c.2589_2593del ENSP00000305692.3:p.Glu863AspfsTer19
ENST00000390015.7:c.2589_2593del ENSP00000374665.3:p.Glu863AspfsTer19
ENST00000573556.1:n.542_546del
NM_000152.3:c.2589_2593del , LRG_673t1:c.2589_2593del NP_000143.2:p.Glu863AspfsTer19
NM_001079803.1:c.2589_2593del NP_001073271.1:p.Glu863AspfsTer19
NM_001079804.1:c.2589_2593del NP_001073272.1:p.Glu863AspfsTer19
XM_005257193.1:c.2589_2593del XP_005257250.1:p.Glu863AspfsTer19
XM_005257194.3:c.2589_2593del XP_005257251.1:p.Glu863AspfsTer19
NM_000152.4:c.2589_2593del NP_000143.2:p.Glu863AspfsTer19
NM_001079803.2:c.2589_2593del NP_001073271.1:p.Glu863AspfsTer19
NM_001079804.2:c.2589_2593del NP_001073272.1:p.Glu863AspfsTer19
XM_005257193.2:c.2589_2593del XP_005257250.1:p.Glu863AspfsTer19
XM_005257194.4:c.2589_2593del XP_005257251.1:p.Glu863AspfsTer19
NM_000152.5:c.2589_2593del MANE Select NP_000143.2:p.Glu863AspfsTer19
NM_001079803.3:c.2589_2593del NP_001073271.1:p.Glu863AspfsTer19
NM_001079804.3:c.2589_2593del NP_001073272.1:p.Glu863AspfsTer19
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