Canonical Allele Identifier: CA2810585814
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110890_80110891insCACCAAACAC , CM000679.2:g.80110890_80110891insCACCAAACAC GRCh38
NC_000017.10:g.78084689_78084690insCACCAAACAC , CM000679.1:g.78084689_78084690insCACCAAACAC GRCh37
NC_000017.9:g.75699284_75699285insCACCAAACAC NCBI36
NG_009822.1:g.14335_14336insCACCAAACAC , LRG_673:g.14335_14336insCACCAAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1552-51_1552-50insCACCAAACAC ENSP00000460543.2:n.1552-51_1552-50insCACCAAACAC
ENST00000572080.2:c.1552-51_1552-50insCACCAAACAC ENSP00000459972.2:n.1552-51_1552-50insCACCAAACAC
ENST00000577106.6:c.1552-51_1552-50insCACCAAACAC ENSP00000458306.2:n.1552-51_1552-50insCACCAAACAC
ENST00000302262.8:c.1552-51_1552-50insCACCAAACAC MANE Select ENSP00000305692.3:n.1552-51_1552-50insCACCAAACAC
ENST00000302262.7:c.1552-51_1552-50insCACCAAACAC ENSP00000305692.3:n.1552-51_1552-50insCACCAAACAC
ENST00000390015.7:c.1552-51_1552-50insCACCAAACAC ENSP00000374665.3:n.1552-51_1552-50insCACCAAACAC
NM_000152.3:c.1552-51_1552-50insCACCAAACAC , LRG_673t1:c.1552-51_1552-50insCACCAAACAC NP_000143.2:n.1552-51_1552-50insCACCAAACAC
NM_001079803.1:c.1552-51_1552-50insCACCAAACAC NP_001073271.1:n.1552-51_1552-50insCACCAAACAC
NM_001079804.1:c.1552-51_1552-50insCACCAAACAC NP_001073272.1:n.1552-51_1552-50insCACCAAACAC
XM_005257193.1:c.1552-51_1552-50insCACCAAACAC XP_005257250.1:n.1552-51_1552-50insCACCAAACAC
XM_005257194.3:c.1552-51_1552-50insCACCAAACAC XP_005257251.1:n.1552-51_1552-50insCACCAAACAC
NM_000152.4:c.1552-51_1552-50insCACCAAACAC NP_000143.2:n.1552-51_1552-50insCACCAAACAC
NM_001079803.2:c.1552-51_1552-50insCACCAAACAC NP_001073271.1:n.1552-51_1552-50insCACCAAACAC
NM_001079804.2:c.1552-51_1552-50insCACCAAACAC NP_001073272.1:n.1552-51_1552-50insCACCAAACAC
XM_005257193.2:c.1552-51_1552-50insCACCAAACAC XP_005257250.1:n.1552-51_1552-50insCACCAAACAC
XM_005257194.4:c.1552-51_1552-50insCACCAAACAC XP_005257251.1:n.1552-51_1552-50insCACCAAACAC
NM_000152.5:c.1552-51_1552-50insCACCAAACAC MANE Select NP_000143.2:n.1552-51_1552-50insCACCAAACAC
NM_001079803.3:c.1552-51_1552-50insCACCAAACAC NP_001073271.1:n.1552-51_1552-50insCACCAAACAC
NM_001079804.3:c.1552-51_1552-50insCACCAAACAC NP_001073272.1:n.1552-51_1552-50insCACCAAACAC