Canonical Allele Identifier: CA2640288850
Gene: GAA HGNC NCBI

Linked Data

gnomAD v4: 17-80118226-CAGCCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118227_80118232del , CM000679.2:g.80118227_80118232del GRCh38
NC_000017.10:g.78092026_78092031del , CM000679.1:g.78092026_78092031del GRCh37
NC_000017.9:g.75706621_75706626del NCBI36
NG_009822.1:g.21672_21677del , LRG_673:g.21672_21677del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2516_2521del ENSP00000460543.2:p.Gln839_Met841delinsLeu
ENST00000572080.2:c.*654_*659del ENSP00000459972.2:n.*654_*659del
ENST00000577106.6:c.2516_2521del ENSP00000458306.2:p.Gln839_Met841delinsLeu
ENST00000302262.8:c.2516_2521del MANE Select ENSP00000305692.3:p.Gln839_Met841delinsLeu
ENST00000302262.7:c.2516_2521del ENSP00000305692.3:p.Gln839_Met841delinsLeu
ENST00000390015.7:c.2516_2521del ENSP00000374665.3:p.Gln839_Met841delinsLeu
ENST00000573556.1:n.469_474del
NM_000152.3:c.2516_2521del , LRG_673t1:c.2516_2521del NP_000143.2:p.Gln839_Met841delinsLeu
NM_001079803.1:c.2516_2521del NP_001073271.1:p.Gln839_Met841delinsLeu
NM_001079804.1:c.2516_2521del NP_001073272.1:p.Gln839_Met841delinsLeu
XM_005257193.1:c.2516_2521del XP_005257250.1:p.Gln839_Met841delinsLeu
XM_005257194.3:c.2516_2521del XP_005257251.1:p.Gln839_Met841delinsLeu
NM_000152.4:c.2516_2521del NP_000143.2:p.Gln839_Met841delinsLeu
NM_001079803.2:c.2516_2521del NP_001073271.1:p.Gln839_Met841delinsLeu
NM_001079804.2:c.2516_2521del NP_001073272.1:p.Gln839_Met841delinsLeu
XM_005257193.2:c.2516_2521del XP_005257250.1:p.Gln839_Met841delinsLeu
XM_005257194.4:c.2516_2521del XP_005257251.1:p.Gln839_Met841delinsLeu
NM_000152.5:c.2516_2521del MANE Select NP_000143.2:p.Gln839_Met841delinsLeu
NM_001079803.3:c.2516_2521del NP_001073271.1:p.Gln839_Met841delinsLeu
NM_001079804.3:c.2516_2521del NP_001073272.1:p.Gln839_Met841delinsLeu
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