Canonical Allele Identifier: CA2697555239

Gene: GAA

Linked Data

• ClinVar Variation Id: 2753169
• ClinVar RCV Id: RCV003503000

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107830_80107831insG , CM000679.2:g.80107830_80107831insG	GRCh38
NC_000017.10:g.78081629_78081630insG , CM000679.1:g.78081629_78081630insG	GRCh37
NC_000017.9:g.75696224_75696225insG	NCBI36
NG_009822.1:g.11275_11276insG , LRG_673:g.11275_11276insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.889_890insG	ENSP00000460543.2:p.Phe297CysfsTer?
ENST00000572080.2:c.889_890insG	ENSP00000459972.2:p.Phe297CysfsTer?
ENST00000577106.6:c.889_890insG	ENSP00000458306.2:p.Phe297CysfsTer?
ENST00000302262.8:c.889_890insG MANE Select	ENSP00000305692.3:p.Phe297CysfsTer?
ENST00000302262.7:c.889_890insG	ENSP00000305692.3:p.Phe297CysfsTer?
ENST00000390015.7:c.889_890insG	ENSP00000374665.3:p.Phe297CysfsTer?
NM_000152.3:c.889_890insG , LRG_673t1:c.889_890insG	NP_000143.2:p.Phe297CysfsTer?
NM_001079803.1:c.889_890insG	NP_001073271.1:p.Phe297CysfsTer?
NM_001079804.1:c.889_890insG	NP_001073272.1:p.Phe297CysfsTer?
XM_005257193.1:c.889_890insG	XP_005257250.1:p.Phe297CysfsTer?
XM_005257194.3:c.889_890insG	XP_005257251.1:p.Phe297CysfsTer?
NM_000152.4:c.889_890insG	NP_000143.2:p.Phe297CysfsTer?
NM_001079803.2:c.889_890insG	NP_001073271.1:p.Phe297CysfsTer?
NM_001079804.2:c.889_890insG	NP_001073272.1:p.Phe297CysfsTer?
XM_005257193.2:c.889_890insG	XP_005257250.1:p.Phe297CysfsTer?
XM_005257194.4:c.889_890insG	XP_005257251.1:p.Phe297CysfsTer?
NM_000152.5:c.889_890insG MANE Select	NP_000143.2:p.Phe297CysfsTer?
NM_001079803.3:c.889_890insG	NP_001073271.1:p.Phe297CysfsTer?
NM_001079804.3:c.889_890insG	NP_001073272.1:p.Phe297CysfsTer?