Canonical Allele Identifier: CA2734097876
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2143900916
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113886_80113888del , CM000679.2:g.80113886_80113888del GRCh38
NC_000017.10:g.78087685_78087687del , CM000679.1:g.78087685_78087687del GRCh37
NC_000017.9:g.75702280_75702282del NCBI36
NG_009822.1:g.17331_17333del , LRG_673:g.17331_17333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2189+520_2189+522del ENSP00000460543.2:n.2189+520_2189+522del
ENST00000572080.2:c.*327+520_*327+522del ENSP00000459972.2:n.*327+520_*327+522del
ENST00000577106.6:c.2189+520_2189+522del ENSP00000458306.2:n.2189+520_2189+522del
ENST00000302262.8:c.2189+520_2189+522del MANE Select ENSP00000305692.3:n.2189+520_2189+522del
ENST00000302262.7:c.2189+520_2189+522del ENSP00000305692.3:n.2189+520_2189+522del
ENST00000390015.7:c.2189+520_2189+522del ENSP00000374665.3:n.2189+520_2189+522del
ENST00000572080.1:c.608+520_608+522del
NM_000152.3:c.2189+520_2189+522del , LRG_673t1:c.2189+520_2189+522del NP_000143.2:n.2189+520_2189+522del
NM_001079803.1:c.2189+520_2189+522del NP_001073271.1:n.2189+520_2189+522del
NM_001079804.1:c.2189+520_2189+522del NP_001073272.1:n.2189+520_2189+522del
XM_005257193.1:c.2189+520_2189+522del XP_005257250.1:n.2189+520_2189+522del
XM_005257194.3:c.2189+520_2189+522del XP_005257251.1:n.2189+520_2189+522del
NM_000152.4:c.2189+520_2189+522del NP_000143.2:n.2189+520_2189+522del
NM_001079803.2:c.2189+520_2189+522del NP_001073271.1:n.2189+520_2189+522del
NM_001079804.2:c.2189+520_2189+522del NP_001073272.1:n.2189+520_2189+522del
XM_005257193.2:c.2189+520_2189+522del XP_005257250.1:n.2189+520_2189+522del
XM_005257194.4:c.2189+520_2189+522del XP_005257251.1:n.2189+520_2189+522del
NM_000152.5:c.2189+520_2189+522del MANE Select NP_000143.2:n.2189+520_2189+522del
NM_001079803.3:c.2189+520_2189+522del NP_001073271.1:n.2189+520_2189+522del
NM_001079804.3:c.2189+520_2189+522del NP_001073272.1:n.2189+520_2189+522del
Search 100 bp 5'
Search 100 bp 3'