Canonical Allele Identifier: CA2277810809
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105065_80105067delinsTCC , CM000679.2:g.80105065_80105067delinsTCC GRCh38
NC_000017.10:g.78078864_78078866delinsTCC , CM000679.1:g.78078864_78078866delinsTCC GRCh37
NC_000017.9:g.75693459_75693461delinsTCC NCBI36
NG_009822.1:g.8510_8512delinsTCC , LRG_673:g.8510_8512delinsTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.479_481delinsTCC ENSP00000460543.2:p.Phe160=
ENST00000572080.2:c.479_481delinsTCC ENSP00000459972.2:p.Phe160=
ENST00000577106.6:c.479_481delinsTCC ENSP00000458306.2:p.Phe160=
ENST00000302262.8:c.479_481delinsTCC MANE Select ENSP00000305692.3:p.Phe160=
ENST00000302262.7:c.479_481delinsTCC ENSP00000305692.3:p.Phe160=
ENST00000390015.7:c.479_481delinsTCC ENSP00000374665.3:p.Phe160=
ENST00000570803.5:c.479_481delinsTCC ENSP00000460543.1:p.Phe160=
ENST00000577106.5:c.479_481delinsTCC ENSP00000458306.1:p.Phe160=
NM_000152.3:c.479_481delinsTCC , LRG_673t1:c.479_481delinsTCC NP_000143.2:p.Phe160=
NM_001079803.1:c.479_481delinsTCC NP_001073271.1:p.Phe160=
NM_001079804.1:c.479_481delinsTCC NP_001073272.1:p.Phe160=
XM_005257193.1:c.479_481delinsTCC XP_005257250.1:p.Phe160=
XM_005257194.3:c.479_481delinsTCC XP_005257251.1:p.Phe160=
NM_000152.4:c.479_481delinsTCC NP_000143.2:p.Phe160=
NM_001079803.2:c.479_481delinsTCC NP_001073271.1:p.Phe160=
NM_001079804.2:c.479_481delinsTCC NP_001073272.1:p.Phe160=
XM_005257193.2:c.479_481delinsTCC XP_005257250.1:p.Phe160=
XM_005257194.4:c.479_481delinsTCC XP_005257251.1:p.Phe160=
NM_000152.5:c.479_481delinsTCC MANE Select NP_000143.2:p.Phe160=
NM_001079803.3:c.479_481delinsTCC NP_001073271.1:p.Phe160=
NM_001079804.3:c.479_481delinsTCC NP_001073272.1:p.Phe160=