Canonical Allele Identifier: CA2277812546
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2039137702
gnomAD v3: 17-80108076-T-TG
gnomAD v4: 17-80108076-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108080dup , CM000679.2:g.80108080dup GRCh38
NC_000017.10:g.78081879dup , CM000679.1:g.78081879dup GRCh37
NC_000017.9:g.75696474dup NCBI36
NG_009822.1:g.11525dup , LRG_673:g.11525dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.955+184dup ENSP00000460543.2:n.955+184dup
ENST00000572080.2:c.955+184dup ENSP00000459972.2:n.955+184dup
ENST00000577106.6:c.955+184dup ENSP00000458306.2:n.955+184dup
ENST00000302262.8:c.955+184dup MANE Select ENSP00000305692.3:n.955+184dup
ENST00000302262.7:c.955+184dup ENSP00000305692.3:n.955+184dup
ENST00000390015.7:c.955+184dup ENSP00000374665.3:n.955+184dup
NM_000152.3:c.955+184dup , LRG_673t1:c.955+184dup NP_000143.2:n.955+184dup
NM_001079803.1:c.955+184dup NP_001073271.1:n.955+184dup
NM_001079804.1:c.955+184dup NP_001073272.1:n.955+184dup
XM_005257193.1:c.955+184dup XP_005257250.1:n.955+184dup
XM_005257194.3:c.955+184dup XP_005257251.1:n.955+184dup
NM_000152.4:c.955+184dup NP_000143.2:n.955+184dup
NM_001079803.2:c.955+184dup NP_001073271.1:n.955+184dup
NM_001079804.2:c.955+184dup NP_001073272.1:n.955+184dup
XM_005257193.2:c.955+184dup XP_005257250.1:n.955+184dup
XM_005257194.4:c.955+184dup XP_005257251.1:n.955+184dup
NM_000152.5:c.955+184dup MANE Select NP_000143.2:n.955+184dup
NM_001079803.3:c.955+184dup NP_001073271.1:n.955+184dup
NM_001079804.3:c.955+184dup NP_001073272.1:n.955+184dup
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