Canonical Allele Identifier: CA2277812609
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2039139789
gnomAD v4: 17-80108205-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108205_80108206insT , CM000679.2:g.80108205_80108206insT GRCh38
NC_000017.10:g.78082004_78082005insT , CM000679.1:g.78082004_78082005insT GRCh37
NC_000017.9:g.75696599_75696600insT NCBI36
NG_009822.1:g.11650_11651insT , LRG_673:g.11650_11651insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.956-85_956-84insT ENSP00000460543.2:n.956-85_956-84insT
ENST00000572080.2:c.956-85_956-84insT ENSP00000459972.2:n.956-85_956-84insT
ENST00000577106.6:c.956-85_956-84insT ENSP00000458306.2:n.956-85_956-84insT
ENST00000302262.8:c.956-85_956-84insT MANE Select ENSP00000305692.3:n.956-85_956-84insT
ENST00000302262.7:c.956-85_956-84insT ENSP00000305692.3:n.956-85_956-84insT
ENST00000390015.7:c.956-85_956-84insT ENSP00000374665.3:n.956-85_956-84insT
NM_000152.3:c.956-85_956-84insT , LRG_673t1:c.956-85_956-84insT NP_000143.2:n.956-85_956-84insT
NM_001079803.1:c.956-85_956-84insT NP_001073271.1:n.956-85_956-84insT
NM_001079804.1:c.956-85_956-84insT NP_001073272.1:n.956-85_956-84insT
XM_005257193.1:c.956-85_956-84insT XP_005257250.1:n.956-85_956-84insT
XM_005257194.3:c.956-85_956-84insT XP_005257251.1:n.956-85_956-84insT
NM_000152.4:c.956-85_956-84insT NP_000143.2:n.956-85_956-84insT
NM_001079803.2:c.956-85_956-84insT NP_001073271.1:n.956-85_956-84insT
NM_001079804.2:c.956-85_956-84insT NP_001073272.1:n.956-85_956-84insT
XM_005257193.2:c.956-85_956-84insT XP_005257250.1:n.956-85_956-84insT
XM_005257194.4:c.956-85_956-84insT XP_005257251.1:n.956-85_956-84insT
NM_000152.5:c.956-85_956-84insT MANE Select NP_000143.2:n.956-85_956-84insT
NM_001079803.3:c.956-85_956-84insT NP_001073271.1:n.956-85_956-84insT
NM_001079804.3:c.956-85_956-84insT NP_001073272.1:n.956-85_956-84insT
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