Canonical Allele Identifier: CA2965193151
Community Standard Title: NM_000152.5(GAA):c.547-20_547-19del
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105729_80105730del , CM000679.2:g.80105729_80105730del GRCh38
NC_000017.10:g.78079528_78079529del , CM000679.1:g.78079528_78079529del GRCh37
NC_000017.9:g.75694123_75694124del NCBI36
NG_009822.1:g.9174_9175del , LRG_673:g.9174_9175del

Transcript Alleles

HGVS Amino-acid Change
NM_000152.5:c.547-20_547-19del MANE Select NP_000143.2:n.547-20_547-19del
ENST00000302262.8:c.547-20_547-19del MANE Select ENSP00000305692.3:n.547-20_547-19del
NM_000152.3:c.547-20_547-19del , LRG_673t1:c.547-20_547-19del NP_000143.2:n.547-20_547-19del
NM_000152.4:c.547-20_547-19del NP_000143.2:n.547-20_547-19del
NM_001079803.1:c.547-20_547-19del NP_001073271.1:n.547-20_547-19del
NM_001079803.2:c.547-20_547-19del NP_001073271.1:n.547-20_547-19del
NM_001079803.3:c.547-20_547-19del NP_001073271.1:n.547-20_547-19del
NM_001079804.1:c.547-20_547-19del NP_001073272.1:n.547-20_547-19del
NM_001079804.2:c.547-20_547-19del NP_001073272.1:n.547-20_547-19del
NM_001079804.3:c.547-20_547-19del NP_001073272.1:n.547-20_547-19del
ENST00000302262.7:c.547-20_547-19del ENSP00000305692.3:n.547-20_547-19del
ENST00000390015.7:c.547-20_547-19del ENSP00000374665.3:n.547-20_547-19del
ENST00000570803.5:c.547-20_547-19del ENSP00000460543.1:n.547-20_547-19del
ENST00000570803.6:c.547-20_547-19del ENSP00000460543.2:n.547-20_547-19del
ENST00000572080.2:c.547-20_547-19del ENSP00000459972.2:n.547-20_547-19del
ENST00000577106.5:c.547-20_547-19del ENSP00000458306.1:n.547-20_547-19del
ENST00000577106.6:c.547-20_547-19del ENSP00000458306.2:n.547-20_547-19del
XM_005257193.1:c.547-20_547-19del XP_005257250.1:n.547-20_547-19del
XM_005257193.2:c.547-20_547-19del XP_005257250.1:n.547-20_547-19del
XM_005257194.3:c.547-20_547-19del XP_005257251.1:n.547-20_547-19del
XM_005257194.4:c.547-20_547-19del XP_005257251.1:n.547-20_547-19del
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