Canonical Allele Identifier: CA2640285795

Gene: GAA

Linked Data

• gnomAD v4: 17-80108432-G-GGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108438_80108443dup , CM000679.2:g.80108438_80108443dup	GRCh38
NC_000017.10:g.78082237_78082242dup , CM000679.1:g.78082237_78082242dup	GRCh37
NC_000017.9:g.75696832_75696837dup	NCBI36
NG_009822.1:g.11883_11888dup , LRG_673:g.11883_11888dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1075+29_1075+34dup	ENSP00000460543.2:n.1075+29_1075+34dup
ENST00000572080.2:c.1075+29_1075+34dup	ENSP00000459972.2:n.1075+29_1075+34dup
ENST00000577106.6:c.1075+29_1075+34dup	ENSP00000458306.2:n.1075+29_1075+34dup
ENST00000302262.8:c.1075+29_1075+34dup MANE Select	ENSP00000305692.3:n.1075+29_1075+34dup
ENST00000302262.7:c.1075+29_1075+34dup	ENSP00000305692.3:n.1075+29_1075+34dup
ENST00000390015.7:c.1075+29_1075+34dup	ENSP00000374665.3:n.1075+29_1075+34dup
NM_000152.3:c.1075+29_1075+34dup , LRG_673t1:c.1075+29_1075+34dup	NP_000143.2:n.1075+29_1075+34dup
NM_001079803.1:c.1075+29_1075+34dup	NP_001073271.1:n.1075+29_1075+34dup
NM_001079804.1:c.1075+29_1075+34dup	NP_001073272.1:n.1075+29_1075+34dup
XM_005257193.1:c.1075+29_1075+34dup	XP_005257250.1:n.1075+29_1075+34dup
XM_005257194.3:c.1075+29_1075+34dup	XP_005257251.1:n.1075+29_1075+34dup
NM_000152.4:c.1075+29_1075+34dup	NP_000143.2:n.1075+29_1075+34dup
NM_001079803.2:c.1075+29_1075+34dup	NP_001073271.1:n.1075+29_1075+34dup
NM_001079804.2:c.1075+29_1075+34dup	NP_001073272.1:n.1075+29_1075+34dup
XM_005257193.2:c.1075+29_1075+34dup	XP_005257250.1:n.1075+29_1075+34dup
XM_005257194.4:c.1075+29_1075+34dup	XP_005257251.1:n.1075+29_1075+34dup
NM_000152.5:c.1075+29_1075+34dup MANE Select	NP_000143.2:n.1075+29_1075+34dup
NM_001079803.3:c.1075+29_1075+34dup	NP_001073271.1:n.1075+29_1075+34dup
NM_001079804.3:c.1075+29_1075+34dup	NP_001073272.1:n.1075+29_1075+34dup