Canonical Allele Identifier: CA2640275982
Gene: GAA HGNC NCBI

Linked Data

gnomAD v4: 17-80105052-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105057dup , CM000679.2:g.80105057dup GRCh38
NC_000017.10:g.78078856dup , CM000679.1:g.78078856dup GRCh37
NC_000017.9:g.75693451dup NCBI36
NG_009822.1:g.8502dup , LRG_673:g.8502dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.471dup ENSP00000460543.2:p.Thr158HisfsTer19
ENST00000572080.2:c.471dup ENSP00000459972.2:p.Thr158HisfsTer19
ENST00000577106.6:c.471dup ENSP00000458306.2:p.Thr158HisfsTer19
ENST00000302262.8:c.471dup MANE Select ENSP00000305692.3:p.Thr158HisfsTer19
ENST00000302262.7:c.471dup ENSP00000305692.3:p.Thr158HisfsTer19
ENST00000390015.7:c.471dup ENSP00000374665.3:p.Thr158HisfsTer19
ENST00000570803.5:c.471dup ENSP00000460543.1:p.Thr158HisfsTer19
ENST00000577106.5:c.471dup ENSP00000458306.1:p.Thr158HisfsTer19
NM_000152.3:c.471dup , LRG_673t1:c.471dup NP_000143.2:p.Thr158HisfsTer19
NM_001079803.1:c.471dup NP_001073271.1:p.Thr158HisfsTer19
NM_001079804.1:c.471dup NP_001073272.1:p.Thr158HisfsTer19
XM_005257193.1:c.471dup XP_005257250.1:p.Thr158HisfsTer19
XM_005257194.3:c.471dup XP_005257251.1:p.Thr158HisfsTer19
NM_000152.4:c.471dup NP_000143.2:p.Thr158HisfsTer19
NM_001079803.2:c.471dup NP_001073271.1:p.Thr158HisfsTer19
NM_001079804.2:c.471dup NP_001073272.1:p.Thr158HisfsTer19
XM_005257193.2:c.471dup XP_005257250.1:p.Thr158HisfsTer19
XM_005257194.4:c.471dup XP_005257251.1:p.Thr158HisfsTer19
NM_000152.5:c.471dup MANE Select NP_000143.2:p.Thr158HisfsTer19
NM_001079803.3:c.471dup NP_001073271.1:p.Thr158HisfsTer19
NM_001079804.3:c.471dup NP_001073272.1:p.Thr158HisfsTer19
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