Canonical Allele Identifier: CA915952249

Gene: GAA

Linked Data

• ClinVar Variation Id: 556352
• ClinVar RCV Id: RCV000672349
• dbSNP Id: rs3071247
• gnomAD v4: 17-80107727-A-AGCAGCGGGCGGCGGGCAGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107729_80107730insAGCGGGCGGCGGGCAGCGGGC , CM000679.2:g.80107729_80107730insAGCGGGCGGCGGGCAGCGGGC	GRCh38
NC_000017.10:g.78081528_78081529insAGCGGGCGGCGGGCAGCGGGC , CM000679.1:g.78081528_78081529insAGCGGGCGGCGGGCAGCGGGC	GRCh37
NC_000017.9:g.75696123_75696124insAGCGGGCGGCGGGCAGCGGGC	NCBI36
NG_009822.1:g.11174_11175insAGCGGGCGGCGGGCAGCGGGC , LRG_673:g.11174_11175insAGCGGGCGGCGGGCAGCGGGC

Transcript Alleles

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