Canonical Allele Identifier: CA8815843
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1685834
ClinVar RCV Id: RCV002250001
dbSNP Id: rs745427943

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118746dup , CM000679.2:g.80118746dup GRCh38
NC_000017.10:g.78092545dup , CM000679.1:g.78092545dup GRCh37
NC_000017.9:g.75707140dup NCBI36
NG_009822.1:g.22191dup , LRG_673:g.22191dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2740dup ENSP00000460543.2:p.Gln914ProfsTer?
ENST00000572080.2:c.*878dup ENSP00000459972.2:n.*878dup
ENST00000577106.6:c.2740dup ENSP00000458306.2:p.Gln914ProfsTer?
ENST00000302262.8:c.2740dup MANE Select ENSP00000305692.3:p.Gln914ProfsTer?
ENST00000302262.7:c.2740dup ENSP00000305692.3:p.Gln914ProfsTer?
ENST00000390015.7:c.2740dup ENSP00000374665.3:p.Gln914ProfsTer?
ENST00000573556.1:n.693dup
NM_000152.3:c.2740dup , LRG_673t1:c.2740dup NP_000143.2:p.Gln914ProfsTer?
NM_001079803.1:c.2740dup NP_001073271.1:p.Gln914ProfsTer?
NM_001079804.1:c.2740dup NP_001073272.1:p.Gln914ProfsTer?
XM_005257193.1:c.2740dup XP_005257250.1:p.Gln914ProfsTer?
XM_005257194.3:c.2740dup XP_005257251.1:p.Gln914ProfsTer?
NM_000152.4:c.2740dup NP_000143.2:p.Gln914ProfsTer?
NM_001079803.2:c.2740dup NP_001073271.1:p.Gln914ProfsTer?
NM_001079804.2:c.2740dup NP_001073272.1:p.Gln914ProfsTer?
XM_005257193.2:c.2740dup XP_005257250.1:p.Gln914ProfsTer?
XM_005257194.4:c.2740dup XP_005257251.1:p.Gln914ProfsTer?
NM_000152.5:c.2740dup MANE Select NP_000143.2:p.Gln914ProfsTer?
NM_001079803.3:c.2740dup NP_001073271.1:p.Gln914ProfsTer?
NM_001079804.3:c.2740dup NP_001073272.1:p.Gln914ProfsTer?