Canonical Allele Identifier: CA2277815774
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2039302744
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113809_80113810del , CM000679.2:g.80113809_80113810del GRCh38
NC_000017.10:g.78087608_78087609del , CM000679.1:g.78087608_78087609del GRCh37
NC_000017.9:g.75702203_75702204del NCBI36
NG_009822.1:g.17254_17255del , LRG_673:g.17254_17255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2189+443_2189+444del ENSP00000460543.2:n.2189+443_2189+444del
ENST00000572080.2:c.*327+443_*327+444del ENSP00000459972.2:n.*327+443_*327+444del
ENST00000577106.6:c.2189+443_2189+444del ENSP00000458306.2:n.2189+443_2189+444del
ENST00000302262.8:c.2189+443_2189+444del MANE Select ENSP00000305692.3:n.2189+443_2189+444del
ENST00000302262.7:c.2189+443_2189+444del ENSP00000305692.3:n.2189+443_2189+444del
ENST00000390015.7:c.2189+443_2189+444del ENSP00000374665.3:n.2189+443_2189+444del
ENST00000572080.1:c.608+443_608+444del
NM_000152.3:c.2189+443_2189+444del , LRG_673t1:c.2189+443_2189+444del NP_000143.2:n.2189+443_2189+444del
NM_001079803.1:c.2189+443_2189+444del NP_001073271.1:n.2189+443_2189+444del
NM_001079804.1:c.2189+443_2189+444del NP_001073272.1:n.2189+443_2189+444del
XM_005257193.1:c.2189+443_2189+444del XP_005257250.1:n.2189+443_2189+444del
XM_005257194.3:c.2189+443_2189+444del XP_005257251.1:n.2189+443_2189+444del
NM_000152.4:c.2189+443_2189+444del NP_000143.2:n.2189+443_2189+444del
NM_001079803.2:c.2189+443_2189+444del NP_001073271.1:n.2189+443_2189+444del
NM_001079804.2:c.2189+443_2189+444del NP_001073272.1:n.2189+443_2189+444del
XM_005257193.2:c.2189+443_2189+444del XP_005257250.1:n.2189+443_2189+444del
XM_005257194.4:c.2189+443_2189+444del XP_005257251.1:n.2189+443_2189+444del
NM_000152.5:c.2189+443_2189+444del MANE Select NP_000143.2:n.2189+443_2189+444del
NM_001079803.3:c.2189+443_2189+444del NP_001073271.1:n.2189+443_2189+444del
NM_001079804.3:c.2189+443_2189+444del NP_001073272.1:n.2189+443_2189+444del
Search 100 bp 5'
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