Canonical Allele Identifier: CA2640276806
Gene: GAA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105206_80105209del , CM000679.2:g.80105206_80105209del GRCh38
NC_000017.10:g.78079005_78079008del , CM000679.1:g.78079005_78079008del GRCh37
NC_000017.9:g.75693600_75693603del NCBI36
NG_009822.1:g.8651_8654del , LRG_673:g.8651_8654del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.546+74_546+77del ENSP00000460543.2:n.546+74_546+77del
ENST00000572080.2:c.546+74_546+77del ENSP00000459972.2:n.546+74_546+77del
ENST00000577106.6:c.546+74_546+77del ENSP00000458306.2:n.546+74_546+77del
ENST00000302262.8:c.546+74_546+77del MANE Select ENSP00000305692.3:n.546+74_546+77del
ENST00000302262.7:c.546+74_546+77del ENSP00000305692.3:n.546+74_546+77del
ENST00000390015.7:c.546+74_546+77del ENSP00000374665.3:n.546+74_546+77del
ENST00000570803.5:c.546+74_546+77del ENSP00000460543.1:n.546+74_546+77del
ENST00000577106.5:c.546+74_546+77del ENSP00000458306.1:n.546+74_546+77del
NM_000152.3:c.546+74_546+77del , LRG_673t1:c.546+74_546+77del NP_000143.2:n.546+74_546+77del
NM_001079803.1:c.546+74_546+77del NP_001073271.1:n.546+74_546+77del
NM_001079804.1:c.546+74_546+77del NP_001073272.1:n.546+74_546+77del
XM_005257193.1:c.546+74_546+77del XP_005257250.1:n.546+74_546+77del
XM_005257194.3:c.546+74_546+77del XP_005257251.1:n.546+74_546+77del
NM_000152.4:c.546+74_546+77del NP_000143.2:n.546+74_546+77del
NM_001079803.2:c.546+74_546+77del NP_001073271.1:n.546+74_546+77del
NM_001079804.2:c.546+74_546+77del NP_001073272.1:n.546+74_546+77del
XM_005257193.2:c.546+74_546+77del XP_005257250.1:n.546+74_546+77del
XM_005257194.4:c.546+74_546+77del XP_005257251.1:n.546+74_546+77del
NM_000152.5:c.546+74_546+77del MANE Select NP_000143.2:n.546+74_546+77del
NM_001079803.3:c.546+74_546+77del NP_001073271.1:n.546+74_546+77del
NM_001079804.3:c.546+74_546+77del NP_001073272.1:n.546+74_546+77del