Canonical Allele Identifier: CA2695227095
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118749_80118751dup , CM000679.2:g.80118749_80118751dup GRCh38
NC_000017.10:g.78092548_78092550dup , CM000679.1:g.78092548_78092550dup GRCh37
NC_000017.9:g.75707143_75707145dup NCBI36
NG_009822.1:g.22194_22196dup , LRG_673:g.22194_22196dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2743_2745dup ENSP00000460543.2:p.Gln915_Val916insGln
ENST00000572080.2:c.*881_*883dup ENSP00000459972.2:n.*881_*883dup
ENST00000577106.6:c.2743_2745dup ENSP00000458306.2:p.Gln915_Val916insGln
ENST00000302262.8:c.2743_2745dup MANE Select ENSP00000305692.3:p.Gln915_Val916insGln
ENST00000302262.7:c.2743_2745dup ENSP00000305692.3:p.Gln915_Val916insGln
ENST00000390015.7:c.2743_2745dup ENSP00000374665.3:p.Gln915_Val916insGln
ENST00000573556.1:n.696_698dup
NM_000152.3:c.2743_2745dup , LRG_673t1:c.2743_2745dup NP_000143.2:p.Gln915_Val916insGln
NM_001079803.1:c.2743_2745dup NP_001073271.1:p.Gln915_Val916insGln
NM_001079804.1:c.2743_2745dup NP_001073272.1:p.Gln915_Val916insGln
XM_005257193.1:c.2743_2745dup XP_005257250.1:p.Gln915_Val916insGln
XM_005257194.3:c.2743_2745dup XP_005257251.1:p.Gln915_Val916insGln
NM_000152.4:c.2743_2745dup NP_000143.2:p.Gln915_Val916insGln
NM_001079803.2:c.2743_2745dup NP_001073271.1:p.Gln915_Val916insGln
NM_001079804.2:c.2743_2745dup NP_001073272.1:p.Gln915_Val916insGln
XM_005257193.2:c.2743_2745dup XP_005257250.1:p.Gln915_Val916insGln
XM_005257194.4:c.2743_2745dup XP_005257251.1:p.Gln915_Val916insGln
NM_000152.5:c.2743_2745dup MANE Select NP_000143.2:p.Gln915_Val916insGln
NM_001079803.3:c.2743_2745dup NP_001073271.1:p.Gln915_Val916insGln
NM_001079804.3:c.2743_2745dup NP_001073272.1:p.Gln915_Val916insGln
Search 100 bp 5'
Search 100 bp 3'