Canonical Allele Identifier: CA2277817298
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117076_80117077delinsCT , CM000679.2:g.80117076_80117077delinsCT GRCh38
NC_000017.10:g.78090875_78090876delinsCT , CM000679.1:g.78090875_78090876delinsCT GRCh37
NC_000017.9:g.75705470_75705471delinsCT NCBI36
NG_009822.1:g.20521_20522delinsCT , LRG_673:g.20521_20522delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2298_2299delinsCT ENSP00000460543.2:p.Tyr766=
ENST00000572080.2:c.*436_*437delinsCT ENSP00000459972.2:n.*436_*437delinsCT
ENST00000577106.6:c.2298_2299delinsCT ENSP00000458306.2:p.Tyr766=
ENST00000302262.8:c.2298_2299delinsCT MANE Select ENSP00000305692.3:p.Tyr766=
ENST00000302262.7:c.2298_2299delinsCT ENSP00000305692.3:p.Tyr766=
ENST00000390015.7:c.2298_2299delinsCT ENSP00000374665.3:p.Tyr766=
ENST00000572080.1:c.717_718delinsCT
ENST00000573556.1:n.251_252delinsCT
NM_000152.3:c.2298_2299delinsCT , LRG_673t1:c.2298_2299delinsCT NP_000143.2:p.Tyr766=
NM_001079803.1:c.2298_2299delinsCT NP_001073271.1:p.Tyr766=
NM_001079804.1:c.2298_2299delinsCT NP_001073272.1:p.Tyr766=
XM_005257193.1:c.2298_2299delinsCT XP_005257250.1:p.Tyr766=
XM_005257194.3:c.2298_2299delinsCT XP_005257251.1:p.Tyr766=
NM_000152.4:c.2298_2299delinsCT NP_000143.2:p.Tyr766=
NM_001079803.2:c.2298_2299delinsCT NP_001073271.1:p.Tyr766=
NM_001079804.2:c.2298_2299delinsCT NP_001073272.1:p.Tyr766=
XM_005257193.2:c.2298_2299delinsCT XP_005257250.1:p.Tyr766=
XM_005257194.4:c.2298_2299delinsCT XP_005257251.1:p.Tyr766=
NM_000152.5:c.2298_2299delinsCT MANE Select NP_000143.2:p.Tyr766=
NM_001079803.3:c.2298_2299delinsCT NP_001073271.1:p.Tyr766=
NM_001079804.3:c.2298_2299delinsCT NP_001073272.1:p.Tyr766=
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