Canonical Allele Identifier: CA913187393

Gene: GAA

Linked Data

• ClinVar Variation Id: 932900
• ClinVar RCV Id: RCV001200868
• dbSNP Id: rs1555601802
• gnomAD v4: 17-80113333-CG-C
• ERepo: CA913187393/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113338del , CM000679.2:g.80113338del	GRCh38
NC_000017.10:g.78087137del , CM000679.1:g.78087137del	GRCh37
NC_000017.9:g.75701732del	NCBI36
NG_009822.1:g.16783del , LRG_673:g.16783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2161del	ENSP00000460543.2:p.Glu721ArgfsTer?
ENST00000572080.2:c.*299del	ENSP00000459972.2:n.*299del
ENST00000577106.6:c.2161del	ENSP00000458306.2:p.Glu721ArgfsTer?
ENST00000302262.8:c.2161del MANE Select	ENSP00000305692.3:p.Glu721ArgfsTer?
ENST00000302262.7:c.2161del	ENSP00000305692.3:p.Glu721ArgfsTer?
ENST00000390015.7:c.2161del	ENSP00000374665.3:p.Glu721ArgfsTer?
ENST00000572080.1:c.580del
NM_000152.3:c.2161del , LRG_673t1:c.2161del	NP_000143.2:p.Glu721ArgfsTer?
NM_001079803.1:c.2161del	NP_001073271.1:p.Glu721ArgfsTer?
NM_001079804.1:c.2161del	NP_001073272.1:p.Glu721ArgfsTer?
XM_005257193.1:c.2161del	XP_005257250.1:p.Glu721ArgfsTer?
XM_005257194.3:c.2161del	XP_005257251.1:p.Glu721ArgfsTer?
NM_000152.4:c.2161del	NP_000143.2:p.Glu721ArgfsTer?
NM_001079803.2:c.2161del	NP_001073271.1:p.Glu721ArgfsTer?
NM_001079804.2:c.2161del	NP_001073272.1:p.Glu721ArgfsTer?
XM_005257193.2:c.2161del	XP_005257250.1:p.Glu721ArgfsTer?
XM_005257194.4:c.2161del	XP_005257251.1:p.Glu721ArgfsTer?
NM_000152.5:c.2161del MANE Select	NP_000143.2:p.Glu721ArgfsTer?
NM_001079803.3:c.2161del	NP_001073271.1:p.Glu721ArgfsTer?
NM_001079804.3:c.2161del	NP_001073272.1:p.Glu721ArgfsTer?