Canonical Allele Identifier: CA2573154927

Gene: GAA

Linked Data

• ClinVar Variation Id: 1447928
• ClinVar RCV Id: RCV001996981
• dbSNP Id: rs2143829023

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105042_80105043dup , CM000679.2:g.80105042_80105043dup	GRCh38
NC_000017.10:g.78078841_78078842dup , CM000679.1:g.78078841_78078842dup	GRCh37
NC_000017.9:g.75693436_75693437dup	NCBI36
NG_009822.1:g.8487_8488dup , LRG_673:g.8487_8488dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.456_457dup	ENSP00000460543.2:p.Thr153ArgfsTer14
ENST00000572080.2:c.456_457dup	ENSP00000459972.2:p.Thr153ArgfsTer14
ENST00000577106.6:c.456_457dup	ENSP00000458306.2:p.Thr153ArgfsTer14
ENST00000302262.8:c.456_457dup MANE Select	ENSP00000305692.3:p.Thr153ArgfsTer14
ENST00000302262.7:c.456_457dup	ENSP00000305692.3:p.Thr153ArgfsTer14
ENST00000390015.7:c.456_457dup	ENSP00000374665.3:p.Thr153ArgfsTer14
ENST00000570803.5:c.456_457dup	ENSP00000460543.1:p.Thr153ArgfsTer14
ENST00000577106.5:c.456_457dup	ENSP00000458306.1:p.Thr153ArgfsTer14
NM_000152.3:c.456_457dup , LRG_673t1:c.456_457dup	NP_000143.2:p.Thr153ArgfsTer14
NM_001079803.1:c.456_457dup	NP_001073271.1:p.Thr153ArgfsTer14
NM_001079804.1:c.456_457dup	NP_001073272.1:p.Thr153ArgfsTer14
XM_005257193.1:c.456_457dup	XP_005257250.1:p.Thr153ArgfsTer14
XM_005257194.3:c.456_457dup	XP_005257251.1:p.Thr153ArgfsTer14
NM_000152.4:c.456_457dup	NP_000143.2:p.Thr153ArgfsTer14
NM_001079803.2:c.456_457dup	NP_001073271.1:p.Thr153ArgfsTer14
NM_001079804.2:c.456_457dup	NP_001073272.1:p.Thr153ArgfsTer14
XM_005257193.2:c.456_457dup	XP_005257250.1:p.Thr153ArgfsTer14
XM_005257194.4:c.456_457dup	XP_005257251.1:p.Thr153ArgfsTer14
NM_000152.5:c.456_457dup MANE Select	NP_000143.2:p.Thr153ArgfsTer14
NM_001079803.3:c.456_457dup	NP_001073271.1:p.Thr153ArgfsTer14
NM_001079804.3:c.456_457dup	NP_001073272.1:p.Thr153ArgfsTer14