Canonical Allele Identifier: CA8815035

Gene: GAA

Linked Data

• ClinVar Variation Id: 526529
• ClinVar RCV Id: RCV000631073
• dbSNP Id: rs3071247
• ExAC: 17:78081526 A / AGCAGCGGGCGGCGG
• gnomAD v2: 17-78081526-A-AGCAGCGGGCGGCGG
• gnomAD v3: 17-80107727-A-AGCAGCGGGCGGCGG
• gnomAD v4: 17-80107727-A-AGCAGCGGGCGGCGG
• MyVariant Identifiers: chr17:g.78081528_78081529insAGCGGGCGGCGGGC (hg19) ; chr17:g.78081529_78081533delinsAGCGGGCGGCGGGCGGCGG (hg19) ; chr17:g.80107729_80107730insAGCGGGCGGCGGGC (hg38) ; chr17:g.80107730_80107734delinsAGCGGGCGGCGGGCGGCGG (hg38) ; chr17:g.80107727_80107728insGCAGCGGGCGGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107729_80107730insAGCGGGCGGCGGGC , CM000679.2:g.80107729_80107730insAGCGGGCGGCGGGC	GRCh38
NC_000017.10:g.78081528_78081529insAGCGGGCGGCGGGC , CM000679.1:g.78081528_78081529insAGCGGGCGGCGGGC	GRCh37
NC_000017.9:g.75696123_75696124insAGCGGGCGGCGGGC	NCBI36
NG_009822.1:g.11174_11175insAGCGGGCGGCGGGC , LRG_673:g.11174_11175insAGCGGGCGGCGGGC

Transcript Alleles

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