Canonical Allele Identifier: CA2499224999

Gene: GAA

Linked Data

• ClinVar Variation Id: 1062265
• ClinVar RCV Id: RCV001371962
• dbSNP Id: rs2143834814

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105869_80105870delinsTA , CM000679.2:g.80105869_80105870delinsTA	GRCh38
NC_000017.10:g.78079668_78079669delinsTA , CM000679.1:g.78079668_78079669delinsTA	GRCh37
NC_000017.9:g.75694263_75694264delinsTA	NCBI36
NG_009822.1:g.9314_9315delinsTA , LRG_673:g.9314_9315delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.667_668delinsTA	ENSP00000460543.2:p.Arg223Tyr
ENST00000572080.2:c.667_668delinsTA	ENSP00000459972.2:p.Arg223Tyr
ENST00000577106.6:c.667_668delinsTA	ENSP00000458306.2:p.Arg223Tyr
ENST00000302262.8:c.667_668delinsTA MANE Select	ENSP00000305692.3:p.Arg223Tyr
ENST00000302262.7:c.667_668delinsTA	ENSP00000305692.3:p.Arg223Tyr
ENST00000390015.7:c.667_668delinsTA	ENSP00000374665.3:p.Arg223Tyr
ENST00000570803.5:c.667_668delinsTA	ENSP00000460543.1:p.Arg223Tyr
NM_000152.3:c.667_668delinsTA , LRG_673t1:c.667_668delinsTA	NP_000143.2:p.Arg223Tyr
NM_001079803.1:c.667_668delinsTA	NP_001073271.1:p.Arg223Tyr
NM_001079804.1:c.667_668delinsTA	NP_001073272.1:p.Arg223Tyr
XM_005257193.1:c.667_668delinsTA	XP_005257250.1:p.Arg223Tyr
XM_005257194.3:c.667_668delinsTA	XP_005257251.1:p.Arg223Tyr
NM_000152.4:c.667_668delinsTA	NP_000143.2:p.Arg223Tyr
NM_001079803.2:c.667_668delinsTA	NP_001073271.1:p.Arg223Tyr
NM_001079804.2:c.667_668delinsTA	NP_001073272.1:p.Arg223Tyr
XM_005257193.2:c.667_668delinsTA	XP_005257250.1:p.Arg223Tyr
XM_005257194.4:c.667_668delinsTA	XP_005257251.1:p.Arg223Tyr
NM_000152.5:c.667_668delinsTA MANE Select	NP_000143.2:p.Arg223Tyr
NM_001079803.3:c.667_668delinsTA	NP_001073271.1:p.Arg223Tyr
NM_001079804.3:c.667_668delinsTA	NP_001073272.1:p.Arg223Tyr