Canonical Allele Identifier: CA2640289254

Gene: GAA

Linked Data

• gnomAD v4: 17-80111074-C-CCCTTGTCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80111078_80111087dup , CM000679.2:g.80111078_80111087dup	GRCh38
NC_000017.10:g.78084877_78084886dup , CM000679.1:g.78084877_78084886dup	GRCh37
NC_000017.9:g.75699472_75699481dup	NCBI36
NG_009822.1:g.14523_14532dup , LRG_673:g.14523_14532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1636+53_1636+62dup	ENSP00000460543.2:n.1636+53_1636+62dup
ENST00000572080.2:c.1636+53_1636+62dup	ENSP00000459972.2:n.1636+53_1636+62dup
ENST00000577106.6:c.1636+53_1636+62dup	ENSP00000458306.2:n.1636+53_1636+62dup
ENST00000302262.8:c.1636+53_1636+62dup MANE Select	ENSP00000305692.3:n.1636+53_1636+62dup
ENST00000302262.7:c.1636+53_1636+62dup	ENSP00000305692.3:n.1636+53_1636+62dup
ENST00000390015.7:c.1636+53_1636+62dup	ENSP00000374665.3:n.1636+53_1636+62dup
ENST00000572080.1:c.24+53_24+62dup
NM_000152.3:c.1636+53_1636+62dup , LRG_673t1:c.1636+53_1636+62dup	NP_000143.2:n.1636+53_1636+62dup
NM_001079803.1:c.1636+53_1636+62dup	NP_001073271.1:n.1636+53_1636+62dup
NM_001079804.1:c.1636+53_1636+62dup	NP_001073272.1:n.1636+53_1636+62dup
XM_005257193.1:c.1636+53_1636+62dup	XP_005257250.1:n.1636+53_1636+62dup
XM_005257194.3:c.1636+53_1636+62dup	XP_005257251.1:n.1636+53_1636+62dup
NM_000152.4:c.1636+53_1636+62dup	NP_000143.2:n.1636+53_1636+62dup
NM_001079803.2:c.1636+53_1636+62dup	NP_001073271.1:n.1636+53_1636+62dup
NM_001079804.2:c.1636+53_1636+62dup	NP_001073272.1:n.1636+53_1636+62dup
XM_005257193.2:c.1636+53_1636+62dup	XP_005257250.1:n.1636+53_1636+62dup
XM_005257194.4:c.1636+53_1636+62dup	XP_005257251.1:n.1636+53_1636+62dup
NM_000152.5:c.1636+53_1636+62dup MANE Select	NP_000143.2:n.1636+53_1636+62dup
NM_001079803.3:c.1636+53_1636+62dup	NP_001073271.1:n.1636+53_1636+62dup
NM_001079804.3:c.1636+53_1636+62dup	NP_001073272.1:n.1636+53_1636+62dup