Canonical Allele Identifier: CA2277817286
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117058_80117059delinsGG , CM000679.2:g.80117058_80117059delinsGG GRCh38
NC_000017.10:g.78090857_78090858delinsGG , CM000679.1:g.78090857_78090858delinsGG GRCh37
NC_000017.9:g.75705452_75705453delinsGG NCBI36
NG_009822.1:g.20503_20504delinsGG , LRG_673:g.20503_20504delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2280_2281delinsGG ENSP00000460543.2:p.Lys760=
ENST00000572080.2:c.*418_*419delinsGG ENSP00000459972.2:n.*418_*419delinsGG
ENST00000577106.6:c.2280_2281delinsGG ENSP00000458306.2:p.Lys760=
ENST00000302262.8:c.2280_2281delinsGG MANE Select ENSP00000305692.3:p.Lys760=
ENST00000302262.7:c.2280_2281delinsGG ENSP00000305692.3:p.Lys760=
ENST00000390015.7:c.2280_2281delinsGG ENSP00000374665.3:p.Lys760=
ENST00000572080.1:c.699_700delinsGG
ENST00000573556.1:n.233_234delinsGG
NM_000152.3:c.2280_2281delinsGG , LRG_673t1:c.2280_2281delinsGG NP_000143.2:p.Lys760=
NM_001079803.1:c.2280_2281delinsGG NP_001073271.1:p.Lys760=
NM_001079804.1:c.2280_2281delinsGG NP_001073272.1:p.Lys760=
XM_005257193.1:c.2280_2281delinsGG XP_005257250.1:p.Lys760=
XM_005257194.3:c.2280_2281delinsGG XP_005257251.1:p.Lys760=
NM_000152.4:c.2280_2281delinsGG NP_000143.2:p.Lys760=
NM_001079803.2:c.2280_2281delinsGG NP_001073271.1:p.Lys760=
NM_001079804.2:c.2280_2281delinsGG NP_001073272.1:p.Lys760=
XM_005257193.2:c.2280_2281delinsGG XP_005257250.1:p.Lys760=
XM_005257194.4:c.2280_2281delinsGG XP_005257251.1:p.Lys760=
NM_000152.5:c.2280_2281delinsGG MANE Select NP_000143.2:p.Lys760=
NM_001079803.3:c.2280_2281delinsGG NP_001073271.1:p.Lys760=
NM_001079804.3:c.2280_2281delinsGG NP_001073272.1:p.Lys760=
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