Canonical Allele Identifier: CA2547187765
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108704_80108705insAT , CM000679.2:g.80108704_80108705insAT GRCh38
NC_000017.10:g.78082503_78082504insAT , CM000679.1:g.78082503_78082504insAT GRCh37
NC_000017.9:g.75697098_75697099insAT NCBI36
NG_009822.1:g.12149_12150insAT , LRG_673:g.12149_12150insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1202_1203insAT ENSP00000460543.2:p.Trp402CysfsTer?
ENST00000572080.2:c.1202_1203insAT ENSP00000459972.2:p.Trp402CysfsTer?
ENST00000577106.6:c.1202_1203insAT ENSP00000458306.2:p.Trp402CysfsTer?
ENST00000302262.8:c.1202_1203insAT MANE Select ENSP00000305692.3:p.Trp402CysfsTer?
ENST00000302262.7:c.1202_1203insAT ENSP00000305692.3:p.Trp402CysfsTer?
ENST00000390015.7:c.1202_1203insAT ENSP00000374665.3:p.Trp402CysfsTer?
NM_000152.3:c.1202_1203insAT , LRG_673t1:c.1202_1203insAT NP_000143.2:p.Trp402CysfsTer?
NM_001079803.1:c.1202_1203insAT NP_001073271.1:p.Trp402CysfsTer?
NM_001079804.1:c.1202_1203insAT NP_001073272.1:p.Trp402CysfsTer?
XM_005257193.1:c.1202_1203insAT XP_005257250.1:p.Trp402CysfsTer?
XM_005257194.3:c.1202_1203insAT XP_005257251.1:p.Trp402CysfsTer?
NM_000152.4:c.1202_1203insAT NP_000143.2:p.Trp402CysfsTer?
NM_001079803.2:c.1202_1203insAT NP_001073271.1:p.Trp402CysfsTer?
NM_001079804.2:c.1202_1203insAT NP_001073272.1:p.Trp402CysfsTer?
XM_005257193.2:c.1202_1203insAT XP_005257250.1:p.Trp402CysfsTer?
XM_005257194.4:c.1202_1203insAT XP_005257251.1:p.Trp402CysfsTer?
NM_000152.5:c.1202_1203insAT MANE Select NP_000143.2:p.Trp402CysfsTer?
NM_001079803.3:c.1202_1203insAT NP_001073271.1:p.Trp402CysfsTer?
NM_001079804.3:c.1202_1203insAT NP_001073272.1:p.Trp402CysfsTer?
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