Canonical Allele Identifier: CA658795293
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118311_80118315delinsA , CM000679.2:g.80118311_80118315delinsA GRCh38
NC_000017.10:g.78092110_78092114delinsA , CM000679.1:g.78092110_78092114delinsA GRCh37
NC_000017.9:g.75706705_75706709delinsA NCBI36
NG_009822.1:g.21756_21760delinsA , LRG_673:g.21756_21760delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2600_2604delinsA ENSP00000460543.2:p.Val867GlufsTer19
ENST00000572080.2:c.*738_*742delinsA ENSP00000459972.2:n.*738_*742delinsA
ENST00000577106.6:c.2600_2604delinsA ENSP00000458306.2:p.Val867GlufsTer19
ENST00000302262.8:c.2600_2604delinsA MANE Select ENSP00000305692.3:p.Val867GlufsTer19
ENST00000302262.7:c.2600_2604delinsA ENSP00000305692.3:p.Val867GlufsTer19
ENST00000390015.7:c.2600_2604delinsA ENSP00000374665.3:p.Val867GlufsTer19
ENST00000573556.1:n.553_557delinsA
NM_000152.3:c.2600_2604delinsA , LRG_673t1:c.2600_2604delinsA NP_000143.2:p.Val867GlufsTer19
NM_001079803.1:c.2600_2604delinsA NP_001073271.1:p.Val867GlufsTer19
NM_001079804.1:c.2600_2604delinsA NP_001073272.1:p.Val867GlufsTer19
XM_005257193.1:c.2600_2604delinsA XP_005257250.1:p.Val867GlufsTer19
XM_005257194.3:c.2600_2604delinsA XP_005257251.1:p.Val867GlufsTer19
NM_000152.4:c.2600_2604delinsA NP_000143.2:p.Val867GlufsTer19
NM_001079803.2:c.2600_2604delinsA NP_001073271.1:p.Val867GlufsTer19
NM_001079804.2:c.2600_2604delinsA NP_001073272.1:p.Val867GlufsTer19
XM_005257193.2:c.2600_2604delinsA XP_005257250.1:p.Val867GlufsTer19
XM_005257194.4:c.2600_2604delinsA XP_005257251.1:p.Val867GlufsTer19
NM_000152.5:c.2600_2604delinsA MANE Select NP_000143.2:p.Val867GlufsTer19
NM_001079803.3:c.2600_2604delinsA NP_001073271.1:p.Val867GlufsTer19
NM_001079804.3:c.2600_2604delinsA NP_001073272.1:p.Val867GlufsTer19
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