Canonical Allele Identifier: CA145794

Gene: GAA

Linked Data

• ClinVar Variation Id: 92489
• ClinVar RCV Id: RCV000078186 ; RCV000588321 ; RCV000578107 ; RCV003993793
• dbSNP Id: rs3071247
• ExAC: 17:78081526 A / AGCAGCGG
• gnomAD v2: 17-78081526-A-AGCAGCGG
• gnomAD v3: 17-80107727-A-AGCAGCGG
• gnomAD v4: 17-80107727-A-AGCAGCGG
• MyVariant Identifiers: chr17:g.78081528_78081529insAGCGGGC (hg19) ; chr17:g.78081529_78081533delinsAGCGGGCGGCGG (hg19) ; chr17:g.78081527_78081528insCAGCGGG (hg19) ; chr17:g.78081526_78081527insGCAGCGG (hg19) ; chr17:g.80107729_80107730insAGCGGGC (hg38) ; chr17:g.80107730_80107734delinsAGCGGGCGGCGG (hg38) ; chr17:g.80107727_80107728insGCAGCGG (hg38)
• ERepo: CA145794/MONDO:0009290/010
• PubMed: PMID:9259196 ; PMID:17616415 ; PMID:23418865

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107729_80107730insAGCGGGC , CM000679.2:g.80107729_80107730insAGCGGGC	GRCh38
NC_000017.10:g.78081528_78081529insAGCGGGC , CM000679.1:g.78081528_78081529insAGCGGGC	GRCh37
NC_000017.9:g.75696123_75696124insAGCGGGC	NCBI36
NG_009822.1:g.11174_11175insAGCGGGC , LRG_673:g.11174_11175insAGCGGGC

Transcript Alleles

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