Canonical Allele Identifier: CA2810587099
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104504_80104505del , CM000679.2:g.80104504_80104505del GRCh38
NC_000017.10:g.78078303_78078304del , CM000679.1:g.78078303_78078304del GRCh37
NC_000017.9:g.75692898_75692899del NCBI36
NG_009822.1:g.7949_7950del , LRG_673:g.7949_7950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.-32-51_-32-50del ENSP00000460543.2:n.-32-51_-32-50del
ENST00000572080.2:c.-32-51_-32-50del ENSP00000459972.2:n.-32-51_-32-50del
ENST00000577106.6:c.-32-51_-32-50del ENSP00000458306.2:n.-32-51_-32-50del
ENST00000302262.8:c.-32-51_-32-50del MANE Select ENSP00000305692.3:n.-32-51_-32-50del
ENST00000302262.7:c.-32-51_-32-50del ENSP00000305692.3:n.-32-51_-32-50del
ENST00000390015.7:c.-32-51_-32-50del ENSP00000374665.3:n.-32-51_-32-50del
ENST00000570803.5:c.-32-51_-32-50del ENSP00000460543.1:n.-32-51_-32-50del
ENST00000577106.5:c.-32-51_-32-50del ENSP00000458306.1:n.-32-51_-32-50del
NM_000152.3:c.-32-51_-32-50del , LRG_673t1:c.-32-51_-32-50del NP_000143.2:n.-32-51_-32-50del
NM_001079803.1:c.-32-51_-32-50del NP_001073271.1:n.-32-51_-32-50del
NM_001079804.1:c.-32-51_-32-50del NP_001073272.1:n.-32-51_-32-50del
XM_005257193.1:c.-32-51_-32-50del XP_005257250.1:n.-32-51_-32-50del
XM_005257194.3:c.-32-51_-32-50del XP_005257251.1:n.-32-51_-32-50del
NM_000152.4:c.-32-51_-32-50del NP_000143.2:n.-32-51_-32-50del
NM_001079803.2:c.-32-51_-32-50del NP_001073271.1:n.-32-51_-32-50del
NM_001079804.2:c.-32-51_-32-50del NP_001073272.1:n.-32-51_-32-50del
XM_005257193.2:c.-32-51_-32-50del XP_005257250.1:n.-32-51_-32-50del
XM_005257194.4:c.-32-51_-32-50del XP_005257251.1:n.-32-51_-32-50del
NM_000152.5:c.-32-51_-32-50del MANE Select NP_000143.2:n.-32-51_-32-50del
NM_001079803.3:c.-32-51_-32-50del NP_001073271.1:n.-32-51_-32-50del
NM_001079804.3:c.-32-51_-32-50del NP_001073272.1:n.-32-51_-32-50del
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