Canonical Allele Identifier: CA2640289441
Gene: GAA HGNC NCBI

Linked Data

gnomAD v4: 17-80111134-G-GGT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111134_80111135insGT , CM000679.2:g.80111134_80111135insGT GRCh38
NC_000017.10:g.78084933_78084934insGT , CM000679.1:g.78084933_78084934insGT GRCh37
NC_000017.9:g.75699528_75699529insGT NCBI36
NG_009822.1:g.14579_14580insGT , LRG_673:g.14579_14580insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1636+109_1636+110insGT ENSP00000460543.2:n.1636+109_1636+110insGT
ENST00000572080.2:c.1636+109_1636+110insGT ENSP00000459972.2:n.1636+109_1636+110insGT
ENST00000577106.6:c.1636+109_1636+110insGT ENSP00000458306.2:n.1636+109_1636+110insGT
ENST00000302262.8:c.1636+109_1636+110insGT MANE Select ENSP00000305692.3:n.1636+109_1636+110insGT
ENST00000302262.7:c.1636+109_1636+110insGT ENSP00000305692.3:n.1636+109_1636+110insGT
ENST00000390015.7:c.1636+109_1636+110insGT ENSP00000374665.3:n.1636+109_1636+110insGT
ENST00000572080.1:c.24+109_24+110insGT
NM_000152.3:c.1636+109_1636+110insGT , LRG_673t1:c.1636+109_1636+110insGT NP_000143.2:n.1636+109_1636+110insGT
NM_001079803.1:c.1636+109_1636+110insGT NP_001073271.1:n.1636+109_1636+110insGT
NM_001079804.1:c.1636+109_1636+110insGT NP_001073272.1:n.1636+109_1636+110insGT
XM_005257193.1:c.1636+109_1636+110insGT XP_005257250.1:n.1636+109_1636+110insGT
XM_005257194.3:c.1636+109_1636+110insGT XP_005257251.1:n.1636+109_1636+110insGT
NM_000152.4:c.1636+109_1636+110insGT NP_000143.2:n.1636+109_1636+110insGT
NM_001079803.2:c.1636+109_1636+110insGT NP_001073271.1:n.1636+109_1636+110insGT
NM_001079804.2:c.1636+109_1636+110insGT NP_001073272.1:n.1636+109_1636+110insGT
XM_005257193.2:c.1636+109_1636+110insGT XP_005257250.1:n.1636+109_1636+110insGT
XM_005257194.4:c.1636+109_1636+110insGT XP_005257251.1:n.1636+109_1636+110insGT
NM_000152.5:c.1636+109_1636+110insGT MANE Select NP_000143.2:n.1636+109_1636+110insGT
NM_001079803.3:c.1636+109_1636+110insGT NP_001073271.1:n.1636+109_1636+110insGT
NM_001079804.3:c.1636+109_1636+110insGT NP_001073272.1:n.1636+109_1636+110insGT
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