Canonical Allele Identifier: CA2277810802
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105052_80105053delinsAC , CM000679.2:g.80105052_80105053delinsAC GRCh38
NC_000017.10:g.78078851_78078852delinsAC , CM000679.1:g.78078851_78078852delinsAC GRCh37
NC_000017.9:g.75693446_75693447delinsAC NCBI36
NG_009822.1:g.8497_8498delinsAC , LRG_673:g.8497_8498delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.466_467delinsAC ENSP00000460543.2:p.Thr156=
ENST00000572080.2:c.466_467delinsAC ENSP00000459972.2:p.Thr156=
ENST00000577106.6:c.466_467delinsAC ENSP00000458306.2:p.Thr156=
ENST00000302262.8:c.466_467delinsAC MANE Select ENSP00000305692.3:p.Thr156=
ENST00000302262.7:c.466_467delinsAC ENSP00000305692.3:p.Thr156=
ENST00000390015.7:c.466_467delinsAC ENSP00000374665.3:p.Thr156=
ENST00000570803.5:c.466_467delinsAC ENSP00000460543.1:p.Thr156=
ENST00000577106.5:c.466_467delinsAC ENSP00000458306.1:p.Thr156=
NM_000152.3:c.466_467delinsAC , LRG_673t1:c.466_467delinsAC NP_000143.2:p.Thr156=
NM_001079803.1:c.466_467delinsAC NP_001073271.1:p.Thr156=
NM_001079804.1:c.466_467delinsAC NP_001073272.1:p.Thr156=
XM_005257193.1:c.466_467delinsAC XP_005257250.1:p.Thr156=
XM_005257194.3:c.466_467delinsAC XP_005257251.1:p.Thr156=
NM_000152.4:c.466_467delinsAC NP_000143.2:p.Thr156=
NM_001079803.2:c.466_467delinsAC NP_001073271.1:p.Thr156=
NM_001079804.2:c.466_467delinsAC NP_001073272.1:p.Thr156=
XM_005257193.2:c.466_467delinsAC XP_005257250.1:p.Thr156=
XM_005257194.4:c.466_467delinsAC XP_005257251.1:p.Thr156=
NM_000152.5:c.466_467delinsAC MANE Select NP_000143.2:p.Thr156=
NM_001079803.3:c.466_467delinsAC NP_001073271.1:p.Thr156=
NM_001079804.3:c.466_467delinsAC NP_001073272.1:p.Thr156=
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