Canonical Allele Identifier: CA2580095301

Gene: GAA

Linked Data

• ClinVar Variation Id: 1724419
• ClinVar RCV Id: RCV002309687

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105798_80105802delinsGTGT , CM000679.2:g.80105798_80105802delinsGTGT	GRCh38
NC_000017.10:g.78079597_78079601delinsGTGT , CM000679.1:g.78079597_78079601delinsGTGT	GRCh37
NC_000017.9:g.75694192_75694196delinsGTGT	NCBI36
NG_009822.1:g.9243_9247delinsGTGT , LRG_673:g.9243_9247delinsGTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.596_600delinsGTGT	ENSP00000460543.2:p.His199ArgfsTer22
ENST00000572080.2:c.596_600delinsGTGT	ENSP00000459972.2:p.His199ArgfsTer22
ENST00000577106.6:c.596_600delinsGTGT	ENSP00000458306.2:p.His199ArgfsTer22
ENST00000302262.8:c.596_600delinsGTGT MANE Select	ENSP00000305692.3:p.His199ArgfsTer22
ENST00000302262.7:c.596_600delinsGTGT	ENSP00000305692.3:p.His199ArgfsTer22
ENST00000390015.7:c.596_600delinsGTGT	ENSP00000374665.3:p.His199ArgfsTer22
ENST00000570803.5:c.596_600delinsGTGT	ENSP00000460543.1:p.His199ArgfsTer22
ENST00000577106.5:c.596_600delinsGTGT	ENSP00000458306.1:p.His199ArgfsTer?
NM_000152.3:c.596_600delinsGTGT , LRG_673t1:c.596_600delinsGTGT	NP_000143.2:p.His199ArgfsTer22
NM_001079803.1:c.596_600delinsGTGT	NP_001073271.1:p.His199ArgfsTer22
NM_001079804.1:c.596_600delinsGTGT	NP_001073272.1:p.His199ArgfsTer22
XM_005257193.1:c.596_600delinsGTGT	XP_005257250.1:p.His199ArgfsTer22
XM_005257194.3:c.596_600delinsGTGT	XP_005257251.1:p.His199ArgfsTer22
NM_000152.4:c.596_600delinsGTGT	NP_000143.2:p.His199ArgfsTer22
NM_001079803.2:c.596_600delinsGTGT	NP_001073271.1:p.His199ArgfsTer22
NM_001079804.2:c.596_600delinsGTGT	NP_001073272.1:p.His199ArgfsTer22
XM_005257193.2:c.596_600delinsGTGT	XP_005257250.1:p.His199ArgfsTer22
XM_005257194.4:c.596_600delinsGTGT	XP_005257251.1:p.His199ArgfsTer22
NM_000152.5:c.596_600delinsGTGT MANE Select	NP_000143.2:p.His199ArgfsTer22
NM_001079803.3:c.596_600delinsGTGT	NP_001073271.1:p.His199ArgfsTer22
NM_001079804.3:c.596_600delinsGTGT	NP_001073272.1:p.His199ArgfsTer22