Canonical Allele Identifier: CA2695200347

Gene: GAA

Linked Data

• ClinVar Variation Id: 2675781
• ClinVar RCV Id: RCV003461615

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104957_80104967del , CM000679.2:g.80104957_80104967del	GRCh38
NC_000017.10:g.78078756_78078766del , CM000679.1:g.78078756_78078766del	GRCh37
NC_000017.9:g.75693351_75693361del	NCBI36
NG_009822.1:g.8402_8412del , LRG_673:g.8402_8412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.371_381del	ENSP00000460543.2:p.Gln124LeufsTer18
ENST00000572080.2:c.371_381del	ENSP00000459972.2:p.Gln124LeufsTer18
ENST00000577106.6:c.371_381del	ENSP00000458306.2:p.Gln124LeufsTer18
ENST00000302262.8:c.371_381del MANE Select	ENSP00000305692.3:p.Gln124LeufsTer18
ENST00000302262.7:c.371_381del	ENSP00000305692.3:p.Gln124LeufsTer18
ENST00000390015.7:c.371_381del	ENSP00000374665.3:p.Gln124LeufsTer18
ENST00000570803.5:c.371_381del	ENSP00000460543.1:p.Gln124LeufsTer18
ENST00000577106.5:c.371_381del	ENSP00000458306.1:p.Gln124LeufsTer18
NM_000152.3:c.371_381del , LRG_673t1:c.371_381del	NP_000143.2:p.Gln124LeufsTer18
NM_001079803.1:c.371_381del	NP_001073271.1:p.Gln124LeufsTer18
NM_001079804.1:c.371_381del	NP_001073272.1:p.Gln124LeufsTer18
XM_005257193.1:c.371_381del	XP_005257250.1:p.Gln124LeufsTer18
XM_005257194.3:c.371_381del	XP_005257251.1:p.Gln124LeufsTer18
NM_000152.4:c.371_381del	NP_000143.2:p.Gln124LeufsTer18
NM_001079803.2:c.371_381del	NP_001073271.1:p.Gln124LeufsTer18
NM_001079804.2:c.371_381del	NP_001073272.1:p.Gln124LeufsTer18
XM_005257193.2:c.371_381del	XP_005257250.1:p.Gln124LeufsTer18
XM_005257194.4:c.371_381del	XP_005257251.1:p.Gln124LeufsTer18
NM_000152.5:c.371_381del MANE Select	NP_000143.2:p.Gln124LeufsTer18
NM_001079803.3:c.371_381del	NP_001073271.1:p.Gln124LeufsTer18
NM_001079804.3:c.371_381del	NP_001073272.1:p.Gln124LeufsTer18