Canonical Allele Identifier: CA2697555225
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2699236
ClinVar RCV Id: RCV003502933
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105139_80105144del , CM000679.2:g.80105139_80105144del GRCh38
NC_000017.10:g.78078938_78078943del , CM000679.1:g.78078938_78078943del GRCh37
NC_000017.9:g.75693533_75693538del NCBI36
NG_009822.1:g.8584_8589del , LRG_673:g.8584_8589del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.546+7_546+12del ENSP00000460543.2:n.546+7_546+12del
ENST00000572080.2:c.546+7_546+12del ENSP00000459972.2:n.546+7_546+12del
ENST00000577106.6:c.546+7_546+12del ENSP00000458306.2:n.546+7_546+12del
ENST00000302262.8:c.546+7_546+12del MANE Select ENSP00000305692.3:n.546+7_546+12del
ENST00000302262.7:c.546+7_546+12del ENSP00000305692.3:n.546+7_546+12del
ENST00000390015.7:c.546+7_546+12del ENSP00000374665.3:n.546+7_546+12del
ENST00000570803.5:c.546+7_546+12del ENSP00000460543.1:n.546+7_546+12del
ENST00000577106.5:c.546+7_546+12del ENSP00000458306.1:n.546+7_546+12del
NM_000152.3:c.546+7_546+12del , LRG_673t1:c.546+7_546+12del NP_000143.2:n.546+7_546+12del
NM_001079803.1:c.546+7_546+12del NP_001073271.1:n.546+7_546+12del
NM_001079804.1:c.546+7_546+12del NP_001073272.1:n.546+7_546+12del
XM_005257193.1:c.546+7_546+12del XP_005257250.1:n.546+7_546+12del
XM_005257194.3:c.546+7_546+12del XP_005257251.1:n.546+7_546+12del
NM_000152.4:c.546+7_546+12del NP_000143.2:n.546+7_546+12del
NM_001079803.2:c.546+7_546+12del NP_001073271.1:n.546+7_546+12del
NM_001079804.2:c.546+7_546+12del NP_001073272.1:n.546+7_546+12del
XM_005257193.2:c.546+7_546+12del XP_005257250.1:n.546+7_546+12del
XM_005257194.4:c.546+7_546+12del XP_005257251.1:n.546+7_546+12del
NM_000152.5:c.546+7_546+12del MANE Select NP_000143.2:n.546+7_546+12del
NM_001079803.3:c.546+7_546+12del NP_001073271.1:n.546+7_546+12del
NM_001079804.3:c.546+7_546+12del NP_001073272.1:n.546+7_546+12del
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