Canonical Allele Identifier: CA2640279956

Gene: GAA

Linked Data

• gnomAD v4: 17-80107727-A-AGCAGCGGGCGGCGAGCAGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107729_80107730insAGCGGGCGGCGAGCAGCGGGC , CM000679.2:g.80107729_80107730insAGCGGGCGGCGAGCAGCGGGC	GRCh38
NC_000017.10:g.78081528_78081529insAGCGGGCGGCGAGCAGCGGGC , CM000679.1:g.78081528_78081529insAGCGGGCGGCGAGCAGCGGGC	GRCh37
NC_000017.9:g.75696123_75696124insAGCGGGCGGCGAGCAGCGGGC	NCBI36
NG_009822.1:g.11174_11175insAGCGGGCGGCGAGCAGCGGGC , LRG_673:g.11174_11175insAGCGGGCGGCGAGCAGCGGGC

Transcript Alleles

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