Canonical Allele Identifier: CA2739268474
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2814773
ClinVar RCV Id: RCV003610203
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118213dup , CM000679.2:g.80118213dup GRCh38
NC_000017.10:g.78092012dup , CM000679.1:g.78092012dup GRCh37
NC_000017.9:g.75706607dup NCBI36
NG_009822.1:g.21658dup , LRG_673:g.21658dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2502dup ENSP00000460543.2:p.Glu835ArgfsTer?
ENST00000572080.2:c.*640dup ENSP00000459972.2:n.*640dup
ENST00000577106.6:c.2502dup ENSP00000458306.2:p.Glu835ArgfsTer?
ENST00000302262.8:c.2502dup MANE Select ENSP00000305692.3:p.Glu835ArgfsTer?
ENST00000302262.7:c.2502dup ENSP00000305692.3:p.Glu835ArgfsTer?
ENST00000390015.7:c.2502dup ENSP00000374665.3:p.Glu835ArgfsTer?
ENST00000573556.1:n.455dup
NM_000152.3:c.2502dup , LRG_673t1:c.2502dup NP_000143.2:p.Glu835ArgfsTer?
NM_001079803.1:c.2502dup NP_001073271.1:p.Glu835ArgfsTer?
NM_001079804.1:c.2502dup NP_001073272.1:p.Glu835ArgfsTer?
XM_005257193.1:c.2502dup XP_005257250.1:p.Glu835ArgfsTer?
XM_005257194.3:c.2502dup XP_005257251.1:p.Glu835ArgfsTer?
NM_000152.4:c.2502dup NP_000143.2:p.Glu835ArgfsTer?
NM_001079803.2:c.2502dup NP_001073271.1:p.Glu835ArgfsTer?
NM_001079804.2:c.2502dup NP_001073272.1:p.Glu835ArgfsTer?
XM_005257193.2:c.2502dup XP_005257250.1:p.Glu835ArgfsTer?
XM_005257194.4:c.2502dup XP_005257251.1:p.Glu835ArgfsTer?
NM_000152.5:c.2502dup MANE Select NP_000143.2:p.Glu835ArgfsTer?
NM_001079803.3:c.2502dup NP_001073271.1:p.Glu835ArgfsTer?
NM_001079804.3:c.2502dup NP_001073272.1:p.Glu835ArgfsTer?
Search 100 bp 5'
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