Canonical Allele Identifier: CA658795267

Gene: GAA

Linked Data

• ClinVar Variation Id: 1710193
• ClinVar RCV Id: RCV002291120
• ERepo: CA658795267/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112671dup , CM000679.2:g.80112671dup	GRCh38
NC_000017.10:g.78086470dup , CM000679.1:g.78086470dup	GRCh37
NC_000017.9:g.75701065dup	NCBI36
NG_009822.1:g.16116dup , LRG_673:g.16116dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1848dup	ENSP00000460543.2:p.Val617ArgfsTer19
ENST00000572080.2:c.1848dup	ENSP00000459972.2:p.Val617ArgfsTer?
ENST00000577106.6:c.1848dup	ENSP00000458306.2:p.Val617ArgfsTer19
ENST00000302262.8:c.1848dup MANE Select	ENSP00000305692.3:p.Val617ArgfsTer19
ENST00000302262.7:c.1848dup	ENSP00000305692.3:p.Val617ArgfsTer19
ENST00000390015.7:c.1848dup	ENSP00000374665.3:p.Val617ArgfsTer19
ENST00000570716.1:n.288dup
ENST00000572080.1:c.236dup
ENST00000572803.1:n.462dup
NM_000152.3:c.1848dup , LRG_673t1:c.1848dup	NP_000143.2:p.Val617ArgfsTer19
NM_001079803.1:c.1848dup	NP_001073271.1:p.Val617ArgfsTer19
NM_001079804.1:c.1848dup	NP_001073272.1:p.Val617ArgfsTer19
XM_005257193.1:c.1848dup	XP_005257250.1:p.Val617ArgfsTer19
XM_005257194.3:c.1848dup	XP_005257251.1:p.Val617ArgfsTer19
NM_000152.4:c.1848dup	NP_000143.2:p.Val617ArgfsTer19
NM_001079803.2:c.1848dup	NP_001073271.1:p.Val617ArgfsTer19
NM_001079804.2:c.1848dup	NP_001073272.1:p.Val617ArgfsTer19
XM_005257193.2:c.1848dup	XP_005257250.1:p.Val617ArgfsTer19
XM_005257194.4:c.1848dup	XP_005257251.1:p.Val617ArgfsTer19
NM_000152.5:c.1848dup MANE Select	NP_000143.2:p.Val617ArgfsTer19
NM_001079803.3:c.1848dup	NP_001073271.1:p.Val617ArgfsTer19
NM_001079804.3:c.1848dup	NP_001073272.1:p.Val617ArgfsTer19