Canonical Allele Identifier: CA2580095280
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2124840
ClinVar RCV Id: RCV003057359

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107729_80107730insAGCGGGCAGCGGGC , CM000679.2:g.80107729_80107730insAGCGGGCAGCGGGC GRCh38
NC_000017.10:g.78081528_78081529insAGCGGGCAGCGGGC , CM000679.1:g.78081528_78081529insAGCGGGCAGCGGGC GRCh37
NC_000017.9:g.75696123_75696124insAGCGGGCAGCGGGC NCBI36
NG_009822.1:g.11174_11175insAGCGGGCAGCGGGC , LRG_673:g.11174_11175insAGCGGGCAGCGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.858+7_858+8insAGCGGGCAGCGGGC ENSP00000460543.2:n.858+7_858+8insAGCGGGCAGCGGGC
ENST00000572080.2:c.858+7_858+8insAGCGGGCAGCGGGC ENSP00000459972.2:n.858+7_858+8insAGCGGGCAGCGGGC
ENST00000577106.6:c.858+7_858+8insAGCGGGCAGCGGGC ENSP00000458306.2:n.858+7_858+8insAGCGGGCAGCGGGC
ENST00000302262.8:c.858+7_858+8insAGCGGGCAGCGGGC MANE Select ENSP00000305692.3:n.858+7_858+8insAGCGGGCAGCGGGC
ENST00000302262.7:c.858+7_858+8insAGCGGGCAGCGGGC ENSP00000305692.3:n.858+7_858+8insAGCGGGCAGCGGGC
ENST00000390015.7:c.858+7_858+8insAGCGGGCAGCGGGC ENSP00000374665.3:n.858+7_858+8insAGCGGGCAGCGGGC
NM_000152.3:c.858+7_858+8insAGCGGGCAGCGGGC , LRG_673t1:c.858+7_858+8insAGCGGGCAGCGGGC NP_000143.2:n.858+7_858+8insAGCGGGCAGCGGGC
NM_001079803.1:c.858+7_858+8insAGCGGGCAGCGGGC NP_001073271.1:n.858+7_858+8insAGCGGGCAGCGGGC
NM_001079804.1:c.858+7_858+8insAGCGGGCAGCGGGC NP_001073272.1:n.858+7_858+8insAGCGGGCAGCGGGC
XM_005257193.1:c.858+7_858+8insAGCGGGCAGCGGGC XP_005257250.1:n.858+7_858+8insAGCGGGCAGCGGGC
XM_005257194.3:c.858+7_858+8insAGCGGGCAGCGGGC XP_005257251.1:n.858+7_858+8insAGCGGGCAGCGGGC
NM_000152.4:c.858+7_858+8insAGCGGGCAGCGGGC NP_000143.2:n.858+7_858+8insAGCGGGCAGCGGGC
NM_001079803.2:c.858+7_858+8insAGCGGGCAGCGGGC NP_001073271.1:n.858+7_858+8insAGCGGGCAGCGGGC
NM_001079804.2:c.858+7_858+8insAGCGGGCAGCGGGC NP_001073272.1:n.858+7_858+8insAGCGGGCAGCGGGC
XM_005257193.2:c.858+7_858+8insAGCGGGCAGCGGGC XP_005257250.1:n.858+7_858+8insAGCGGGCAGCGGGC
XM_005257194.4:c.858+7_858+8insAGCGGGCAGCGGGC XP_005257251.1:n.858+7_858+8insAGCGGGCAGCGGGC
NM_000152.5:c.858+7_858+8insAGCGGGCAGCGGGC MANE Select NP_000143.2:n.858+7_858+8insAGCGGGCAGCGGGC
NM_001079803.3:c.858+7_858+8insAGCGGGCAGCGGGC NP_001073271.1:n.858+7_858+8insAGCGGGCAGCGGGC
NM_001079804.3:c.858+7_858+8insAGCGGGCAGCGGGC NP_001073272.1:n.858+7_858+8insAGCGGGCAGCGGGC