Canonical Allele Identifier: CA2580095300

Gene: GAA

Linked Data

• ClinVar Variation Id: 2141045
• ClinVar RCV Id: RCV003060266

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105797_80105798delinsTG , CM000679.2:g.80105797_80105798delinsTG	GRCh38
NC_000017.10:g.78079596_78079597delinsTG , CM000679.1:g.78079596_78079597delinsTG	GRCh37
NC_000017.9:g.75694191_75694192delinsTG	NCBI36
NG_009822.1:g.9242_9243delinsTG , LRG_673:g.9242_9243delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.595_596delinsTG	ENSP00000460543.2:p.His199Cys
ENST00000572080.2:c.595_596delinsTG	ENSP00000459972.2:p.His199Cys
ENST00000577106.6:c.595_596delinsTG	ENSP00000458306.2:p.His199Cys
ENST00000302262.8:c.595_596delinsTG MANE Select	ENSP00000305692.3:p.His199Cys
ENST00000302262.7:c.595_596delinsTG	ENSP00000305692.3:p.His199Cys
ENST00000390015.7:c.595_596delinsTG	ENSP00000374665.3:p.His199Cys
ENST00000570803.5:c.595_596delinsTG	ENSP00000460543.1:p.His199Cys
ENST00000577106.5:c.595_596delinsTG	ENSP00000458306.1:p.His199Cys
NM_000152.3:c.595_596delinsTG , LRG_673t1:c.595_596delinsTG	NP_000143.2:p.His199Cys
NM_001079803.1:c.595_596delinsTG	NP_001073271.1:p.His199Cys
NM_001079804.1:c.595_596delinsTG	NP_001073272.1:p.His199Cys
XM_005257193.1:c.595_596delinsTG	XP_005257250.1:p.His199Cys
XM_005257194.3:c.595_596delinsTG	XP_005257251.1:p.His199Cys
NM_000152.4:c.595_596delinsTG	NP_000143.2:p.His199Cys
NM_001079803.2:c.595_596delinsTG	NP_001073271.1:p.His199Cys
NM_001079804.2:c.595_596delinsTG	NP_001073272.1:p.His199Cys
XM_005257193.2:c.595_596delinsTG	XP_005257250.1:p.His199Cys
XM_005257194.4:c.595_596delinsTG	XP_005257251.1:p.His199Cys
NM_000152.5:c.595_596delinsTG MANE Select	NP_000143.2:p.His199Cys
NM_001079803.3:c.595_596delinsTG	NP_001073271.1:p.His199Cys
NM_001079804.3:c.595_596delinsTG	NP_001073272.1:p.His199Cys