Canonical Allele Identifier: CA16041891
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 371457
ClinVar RCV Id: RCV000410060
dbSNP Id: rs1057517286

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108606del , CM000679.2:g.80108606del GRCh38
NC_000017.10:g.78082405del , CM000679.1:g.78082405del GRCh37
NC_000017.9:g.75697000del NCBI36
NG_009822.1:g.12051del , LRG_673:g.12051del

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.1193del ENSP00000460543.2:p.Leu398ArgfsTer?
ENST00000572080.2:c.1193del ENSP00000459972.2:p.Leu398ArgfsTer?
ENST00000577106.6:c.1193del ENSP00000458306.2:p.Leu398ArgfsTer?
ENST00000302262.8:c.1193del MANE Select ENSP00000305692.3:p.Leu398ArgfsTer?
ENST00000302262.7:c.1193del ENSP00000305692.3:p.Leu398ArgfsTer?
ENST00000390015.7:c.1193del ENSP00000374665.3:p.Leu398ArgfsTer?
NM_000152.3:c.1193del , LRG_673t1:c.1193del NP_000143.2:p.Leu398ArgfsTer?
NM_001079803.1:c.1193del NP_001073271.1:p.Leu398ArgfsTer?
NM_001079804.1:c.1193del NP_001073272.1:p.Leu398ArgfsTer?
XM_005257193.1:c.1193del XP_005257250.1:p.Leu398ArgfsTer?
XM_005257194.3:c.1193del XP_005257251.1:p.Leu398ArgfsTer?
NM_000152.4:c.1193del NP_000143.2:p.Leu398ArgfsTer?
NM_001079803.2:c.1193del NP_001073271.1:p.Leu398ArgfsTer?
NM_001079804.2:c.1193del NP_001073272.1:p.Leu398ArgfsTer?
XM_005257193.2:c.1193del XP_005257250.1:p.Leu398ArgfsTer?
XM_005257194.4:c.1193del XP_005257251.1:p.Leu398ArgfsTer?
NM_000152.5:c.1193del MANE Select NP_000143.2:p.Leu398ArgfsTer?
NM_001079803.3:c.1193del NP_001073271.1:p.Leu398ArgfsTer?
NM_001079804.3:c.1193del NP_001073272.1:p.Leu398ArgfsTer?