Canonical Allele Identifier: CA2580612671
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2020259
ClinVar RCV Id: RCV002852433
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108551_80108553del , CM000679.2:g.80108551_80108553del GRCh38
NC_000017.10:g.78082350_78082352del , CM000679.1:g.78082350_78082352del GRCh37
NC_000017.9:g.75696945_75696947del NCBI36
NG_009822.1:g.11996_11998del , LRG_673:g.11996_11998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1138_1140del ENSP00000460543.2:p.Ser380del
ENST00000572080.2:c.1138_1140del ENSP00000459972.2:p.Ser380del
ENST00000577106.6:c.1138_1140del ENSP00000458306.2:p.Ser380del
ENST00000302262.8:c.1138_1140del MANE Select ENSP00000305692.3:p.Ser380del
ENST00000302262.7:c.1138_1140del ENSP00000305692.3:p.Ser380del
ENST00000390015.7:c.1138_1140del ENSP00000374665.3:p.Ser380del
NM_000152.3:c.1138_1140del , LRG_673t1:c.1138_1140del NP_000143.2:p.Ser380del
NM_001079803.1:c.1138_1140del NP_001073271.1:p.Ser380del
NM_001079804.1:c.1138_1140del NP_001073272.1:p.Ser380del
XM_005257193.1:c.1138_1140del XP_005257250.1:p.Ser380del
XM_005257194.3:c.1138_1140del XP_005257251.1:p.Ser380del
NM_000152.4:c.1138_1140del NP_000143.2:p.Ser380del
NM_001079803.2:c.1138_1140del NP_001073271.1:p.Ser380del
NM_001079804.2:c.1138_1140del NP_001073272.1:p.Ser380del
XM_005257193.2:c.1138_1140del XP_005257250.1:p.Ser380del
XM_005257194.4:c.1138_1140del XP_005257251.1:p.Ser380del
NM_000152.5:c.1138_1140del MANE Select NP_000143.2:p.Ser380del
NM_001079803.3:c.1138_1140del NP_001073271.1:p.Ser380del
NM_001079804.3:c.1138_1140del NP_001073272.1:p.Ser380del
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