Canonical Allele Identifier: CA986711711
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2039401098
gnomAD v3: 17-80118180-CT-C
gnomAD v4: 17-80118180-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118182del , CM000679.2:g.80118182del GRCh38
NC_000017.10:g.78091981del , CM000679.1:g.78091981del GRCh37
NC_000017.9:g.75706576del NCBI36
NG_009822.1:g.21627del , LRG_673:g.21627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2482-11del ENSP00000460543.2:n.2482-11del
ENST00000572080.2:c.*620-11del ENSP00000459972.2:n.*620-11del
ENST00000577106.6:c.2482-11del ENSP00000458306.2:n.2482-11del
ENST00000302262.8:c.2482-11del MANE Select ENSP00000305692.3:n.2482-11del
ENST00000302262.7:c.2482-11del ENSP00000305692.3:n.2482-11del
ENST00000390015.7:c.2482-11del ENSP00000374665.3:n.2482-11del
ENST00000573556.1:n.435-11del
NM_000152.3:c.2482-11del , LRG_673t1:c.2482-11del NP_000143.2:n.2482-11del
NM_001079803.1:c.2482-11del NP_001073271.1:n.2482-11del
NM_001079804.1:c.2482-11del NP_001073272.1:n.2482-11del
XM_005257193.1:c.2482-11del XP_005257250.1:n.2482-11del
XM_005257194.3:c.2482-11del XP_005257251.1:n.2482-11del
NM_000152.4:c.2482-11del NP_000143.2:n.2482-11del
NM_001079803.2:c.2482-11del NP_001073271.1:n.2482-11del
NM_001079804.2:c.2482-11del NP_001073272.1:n.2482-11del
XM_005257193.2:c.2482-11del XP_005257250.1:n.2482-11del
XM_005257194.4:c.2482-11del XP_005257251.1:n.2482-11del
NM_000152.5:c.2482-11del MANE Select NP_000143.2:n.2482-11del
NM_001079803.3:c.2482-11del NP_001073271.1:n.2482-11del
NM_001079804.3:c.2482-11del NP_001073272.1:n.2482-11del
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