Canonical Allele Identifier: CA2277812620
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108227_80108228delinsTG , CM000679.2:g.80108227_80108228delinsTG GRCh38
NC_000017.10:g.78082026_78082027delinsTG , CM000679.1:g.78082026_78082027delinsTG GRCh37
NC_000017.9:g.75696621_75696622delinsTG NCBI36
NG_009822.1:g.11672_11673delinsTG , LRG_673:g.11672_11673delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.956-63_956-62delinsTG ENSP00000460543.2:n.956-63_956-62delinsTG
ENST00000572080.2:c.956-63_956-62delinsTG ENSP00000459972.2:n.956-63_956-62delinsTG
ENST00000577106.6:c.956-63_956-62delinsTG ENSP00000458306.2:n.956-63_956-62delinsTG
ENST00000302262.8:c.956-63_956-62delinsTG MANE Select ENSP00000305692.3:n.956-63_956-62delinsTG
ENST00000302262.7:c.956-63_956-62delinsTG ENSP00000305692.3:n.956-63_956-62delinsTG
ENST00000390015.7:c.956-63_956-62delinsTG ENSP00000374665.3:n.956-63_956-62delinsTG
NM_000152.3:c.956-63_956-62delinsTG , LRG_673t1:c.956-63_956-62delinsTG NP_000143.2:n.956-63_956-62delinsTG
NM_001079803.1:c.956-63_956-62delinsTG NP_001073271.1:n.956-63_956-62delinsTG
NM_001079804.1:c.956-63_956-62delinsTG NP_001073272.1:n.956-63_956-62delinsTG
XM_005257193.1:c.956-63_956-62delinsTG XP_005257250.1:n.956-63_956-62delinsTG
XM_005257194.3:c.956-63_956-62delinsTG XP_005257251.1:n.956-63_956-62delinsTG
NM_000152.4:c.956-63_956-62delinsTG NP_000143.2:n.956-63_956-62delinsTG
NM_001079803.2:c.956-63_956-62delinsTG NP_001073271.1:n.956-63_956-62delinsTG
NM_001079804.2:c.956-63_956-62delinsTG NP_001073272.1:n.956-63_956-62delinsTG
XM_005257193.2:c.956-63_956-62delinsTG XP_005257250.1:n.956-63_956-62delinsTG
XM_005257194.4:c.956-63_956-62delinsTG XP_005257251.1:n.956-63_956-62delinsTG
NM_000152.5:c.956-63_956-62delinsTG MANE Select NP_000143.2:n.956-63_956-62delinsTG
NM_001079803.3:c.956-63_956-62delinsTG NP_001073271.1:n.956-63_956-62delinsTG
NM_001079804.3:c.956-63_956-62delinsTG NP_001073272.1:n.956-63_956-62delinsTG
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